QHerit® carrier screening

3 clinically relevant panels that provide actionable results

When your patients are looking to understand if they are a carrier for specific genetic conditions like cystic fibrosis, spinal muscular atrophy, fragile X syndrome, or Tay-Sachs disease, appropriate genetic testing and actionable results are essential.

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Relevant results. Confident care.

QHerit® carrier screening is a medically-responsible portfolio of clinically relevant tests that screen only for diseases recommended in guidelines established by professional organizations (ACOG, ACMG, NSGC, and Jewish advocacy groups) for carrier testing.

Our experienced genetic counselors and scientists developed 3 pan-ethnic QHerit carrier screening panels to provide you with the level of testing that is medically appropriate for each patient.

 
 
QHerit
QHerit Plus
QHerit Extended
Screens for:
The most common disorders across all ethnicities: CF, SMA, fragile X, and Tay-Sachs.
Everything included in QHerit, with an additional 63 disorders that fit your needs with a mid-sized panel.
Everything in QHerit Plus, with an additional 65 disorders to further expand medically guided screening.
Test code:
Female: 39867
Male: 39988
Female: 39866
Male: 39987
Panel size:
22 Genes
85 Genes
150 Genes
QHerit
Screens for:
The most common disorders across all ethnicities: CF, SMA, fragile X, and Tay-Sachs.
Test code:
Panel size:
22 Genes
QHerit Plus
Screens for:
Everything included in QHerit, with an additional 63 disorders that fit your needs with a mid-sized panel.
Test code:
Female: 39867
Male: 39988
Panel size:
85 Genes
QHerit Extended
Screens for:
Everything in QHerit Plus, with an additional 65 disorders to further expand medically-guided screening.
Test code:
Female: 39866
Male: 39987
Panel size:
150 Genes

Please note that Quest offers a variety of single gene and gene panel testing. For the genetic panel noted in this document, there may be single gene tests or smaller panels that may be applicable for your patient. Refer to the Quest Diagnostics Test Directory for further information.

73%
of insured patients pay less than $25a
73%
73%
of insured patients pay less than $25a

Responsible genomics for insights that empower action

We understand that you and your patients depend on these results for prenatal planning and care. The QHerit carrier screening portfolio minimizes patient anxiety with medically-appropriate testing and provides relevant insights that empower action.

Screens only for conditions that have actionable medical recommendations
Next-generation sequencing ensures accuracy across a greater number of disorders
Analysis of the same genetic alterations across QHerit tests ensures consistent results over your patient’s lifetime
Appropriate for all women and couples, regardless of ethnicity
Screens only for conditions that have actionable medical recommendations
Next-generation sequencing ensures accuracy across a greater number of disorders
Analysis of the same genetic alterations across QHerit tests ensures consistent results over your patient’s lifetime
Appropriate for all women and couples, regardless of ethnicity

Genetic testing that’s accessible and affordable

Your patients won’t be surprised by out-of-pocket costs.

  • In-network with most major health plans
  • QHerit No Surprise program helps determine prior authorization requirements and limits patients’ out-of-pocket responsibility to $300
73%
of insured patients pay less than $25a
73%
of insured patients pay less than $25a

Choose Quest for the carrier screening you and your patients can count on

40+ years and counting of experience and advancement in genetic testing
3 genomic Centers of Excellence empower advanced diagnostic capabilities and specialized competencies
600+ MDs/PhDs and genetic counselors who are leaders and innovators within their respective fields

Visit the Test Directory to order the ideal QHerit carrier screening test for your patients today

QHerit carrier screening

DISEASE CONDITIONS

GENE

QHERIT
(22 conditions)
Test code: 94372

QHERIT PLUS
(84 conditions)
Test code:
Female: 39867 Male: 39988

QHERIT EXTENDED
(150 conditions)
Test code:
Female: 39866 Male: 39987

DISEASE CONDITION

Alpha-thalassemia

GENE

HBA1/HBA2

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Beta-hemoglobinopathies (including sickle cell disease)

GENE

HBB

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Bloom syndrome

GENE

BLM

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Canavan disease

GENE

ASPA

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Cystic fibrosis

GENE

CFTR

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Dihydrolipoamide dehydrogenase deficiency

GENE

DLD

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Familial dysautomia

GENE

IKBKAP

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Familial hyperinsulinism, ABCC8-related

GENE

ABCC8

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Fanconi anemia, type C

GENE

FANCC

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Fragile X syndromeb

GENE

FMR1

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Gaucher disease

GENE

GBA

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Glycogen storage disease, type 1A

GENE

G6PC

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Joubert syndrome 2

GENE

TMEM216

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Maple syrup urine disease, 1B

GENE

BCKDHB

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Mucolipidosis, type 4

GENE

MCOLN1

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Nemaline myopathy

GENE

NEB

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Niemann-Pick disease, types A & B

GENE

SMPD1

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Spinal muscular atrophy

GENE

SMN

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Tay-Sachs disease

GENE

HEXA

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Usher syndrome, type 1F

GENE

PCDH15

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Usher syndrome, type 3A

GENE

CLRN1

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Walker-Warburg syndrome

GENE

FKTN

QHERIT (22 conditions) Test code: 94372

Yes

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Abetalipoproteinemia

GENE

MTTP

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Adrenoleukodystrophy, X-linkedb

GENE

ABCD1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Argininosuccinic aciduria

GENE

ASL

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Ataxia-telangiectasia (A-T)

GENE

ATM

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Autosomal recessive polycystic kidney disease (ARPKD)

GENE

PKHD1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Bardet-Biedl syndrome, BBS1-related

GENE

BBS1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Bardet-Biedl syndrome, BBS2-related

GENE

BBS2

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Biotinidase deficiency

GENE

BTD

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Carnitine palmitoyltransferase II deficiency

GENE

CPT2

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Cerebrotendinous xanthomatosis (CTX)

GENE

CYP27A1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Citrullinemia, type 1

GENE

ASS1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Combined pituitary hormone deficiency

GENE

PROP1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Congenital amegakaryocytic thrombocytopenia

GENE

MPL

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Congenital disorder of glycosylation, type 1A

GENE

PMM2

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Cystinosis

GENE

CTNS

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

D-bifunctional protein deficiency

GENE

HSD17B4

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Factor XI deficiency

GENE

F11

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Familial Mediterranean fever

GENE

MEFV

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Galactosemia, GALT-related

GENE

GALT

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Glutaric acidemia, type 1

GENE

GCDH

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Glycogen storage disease, type 2 (Pompe disease)

GENE

GAA

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Glycogen storage disease, type 3 (Cori disease)

GENE

AGL

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Glycogen storage disease, type 4

GENE

GBE1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

GRACILE syndrome (Fellman syndrome)

GENE

BCS1L

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Hereditary fructose intolerance

GENE

ALDOB

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Hermansky-Pudlak syndrome, HPS1-related

GENE

HPS1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Hermansky-Pudlak syndrome, HPS3-related

GENE

HPS3

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Hypophosphatasia

GENE

ALPL

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Krabbe disease

GENE

GALC

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Limb-girdle muscular dystrophy, type 2A

GENE

CAPN3

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Limb-girdle muscular dystrophy, type 2D

GENE

SGCA

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)

GENE

HADHA

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Maple syrup urine disease, 1A

GENE

BCKDHA

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Medium chain Acyl-CoA dehydrogenase deficiency (MCAD deficiency)

GENE

ACADM

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Metachromatic leukodystrophy

GENE

ARSA

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Methylmalonic aciduria and homocystinuria, type CBIC

GENE

MMACHC

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Mucolipidosis, type 2 and 3, GNPTAB-related

GENE

GNPTAB

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Mucopolysaccharidosis, type I (Hurler syndrome)

GENE

IDUA

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Mucopolysaccharidosis, Type 3A (Sanfilippo syndrome A)

GENE

SGSH

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Nephrotic syndrome, NPHS1-related (congenital Finnish nephrosis)

GENE

NPHS1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Neuronal ceroid-lipofuscinosis, CLN3-related

GENE

CLN3

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Neuronal ceroid-lipofuscinosis, CLN5-related

GENE

CLN5

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Neuronal ceroid-lipofuscinosis, CLN8-related

GENE

CLN8

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Neuronal ceroid-lipofuscinosis, PPT1-related

GENE

PPT1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Neuronal ceroid-lipofuscinosis, TPP1-related

GENE

TPP1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Nijmegen breakage syndrome

GENE

NBN

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Nonsyndromic hearing loss, GJB2-related

GENE

GJB2

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Ornithine transcarbamylase deficiency, X-linkedb

GENE

OTC

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Pendred syndrome and DFNB4 hearing loss

GENE

SLC26A4

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Phenylketonuria (PKU)

GENE

PAH

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Primary hyperoxaluria type 1 (PH1)

GENE

AGXT

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Propionic acidemia, PCCA-related

GENE

PCCA

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Propionic acidemia, PCCB-related

GENE

PCCB

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Sjögren-Larsson syndrome

GENE

ALDH3A2

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Skeletal dysplasias, SLC26A2-related

GENE

SLC26A2

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Smith-Lemli-Opitz syndrome

GENE

DHCR7

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Systemic primary carnitine deficiency

GENE

SLC22A5

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Tyrosinemia, type 1

GENE

FAH

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Usher syndrome, type 2A

GENE

USH2A

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

GENE

ACADVL

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Wilson disease

GENE

ATP7B

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Zellweger spectrum disorder, PEX2-related

GENE

PEX2

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

Yes

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

3-ketothiolase deficiency

GENE

ACAT1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

3-methylcrotonyl-CoA carboxylase deficiency, type 1

GENE

MCCC1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

3-methylcrotonyl-CoA carboxylase deficiency, type 2

GENE

MCCC2

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

6-pyruvoyl-tetrahydropterin synthase deficiency

GENE

PTS

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Adenosine deaminase deficiency

GENE

ADA

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Alpha-mannosidosis

GENE

MAN2B1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Alport syndrome, COL4A3-related

GENE

COL4A3

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Alport syndrome, COL4A4-related

GENE

COL4A4

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Alport syndrome, COL4A5-related, X-linkedb

GENE

COL4A5

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Andermann syndrome

GENE

SLC12A6

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Arthrogryposis, mental retardation, and seizures

GENE

SLC35A3

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Aspartylglycosaminuria

GENE

AGA

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

ATP7A-related disorders (Menkes disease, Occipital horn syndrome), X-linkedb

GENE

ATP7A

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Autoimmune polyglandular syndrome, type 1

GENE

AIRE

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

GENE

SACS

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Bardet-Biedl syndrome, BBS10-related

GENE

BBS10

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Cartilage-hair hypoplasia

GENE

RMRP

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Congenital muscular dystrophy, type 1A

GENE

LAMA2

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Deafness, autosomal recessive 77

GENE

LOXHD1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Dyskeratosis congenita (RTEL1)

GENE

RTEL1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Familial hyperinsulinism

GENE

KCNJ11

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Fanconi anemia group A

GENE

FANCA

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Glycine encephalopathy, AMT-related

GENE

AMT

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Glycine encephalopathy, GLDC-related

GENE

GLDC

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Glycogen storage disease, type 1B

GENE

SLC37A4

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

GM1 gangliosidosis and mucopolysaccharidosis type 4B, Morquio Syndrome

GENE

GLB1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

HMG-CoA lyase deficiency, HL deficiency

GENE

HMGCL

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Holocarboxylase synthetase deficiency

GENE

HLCS

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Homocystinuria, CBS-related

GENE

CBS

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Hydrolethalus syndrome

GENE

HYLS1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Inclusion body myopathy 2

GENE

GNE

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Infantile cerebral and cerebellar atrophy (MED17)

GENE

MED17

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Isovaleric acidemia

GENE

IVD

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Junctional epidermolysis bullosa, LAMA3-related

GENE

LAMA3

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Junctional epidermolysis bullosa, LAMB3-related

GENE

LAMB3

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Junctional epidermolysis bullosa, LAMC2-related

GENE

LAMC2

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Lamellar ichthyosis, type 1

GENE

TGM1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Leber congenital amaurosis, type CEP290

GENE

CEP290

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Leigh syndrome, French Canadian type

GENE

LRPPRC

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Lethal congenital contracture syndrome 1

GENE

GLE1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Limb-girdle muscular dystrophy, type 2E

GENE

SGCB

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Lysinuric protein intolerance

GENE

SLC7A7

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Maple syrup urine disease, type 2

GENE

DBT

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Methylmalonic acidemia, MMAA-related

GENE

MMAA

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Methylmalonic acidemia, MMAB-related

GENE

MMAB

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Methylmalonic acidemia, MUT-related

GENE

MUT

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Mucopolysaccharidosis, type 2, Hunter syndromeb

GENE

IDS

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Mucopolysaccharidosis, type 3B (Sanfilippo B)

GENE

NAGLU

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Mucopolysaccharidosis, type 3C (Sanfilippo C)

GENE

HGSNAT

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Mucopolysaccharidosis, type 3D (Sanfilippo D)

GENE

GNS

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Mucopolysaccharidosis, Type 6, Maroteaux-Lamy Syndrome

GENE

ARSB

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Neuronal ceroid lipofuscinosis, CLN6-related

GENE

CLN6

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Niemann-Pick type C1/D (Nova Scotia type)

GENE

NPC1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Pyruvate carboxylase deficiency

GENE

PC

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Retinitis pigmentosa 59 - autosomal recessive

GENE

DHDDS

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Rhizomelic chondrodysplasia punctata, type 1

GENE

PEX7

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Sandhoff disease

GENE

HEXB

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Spondylothoracic dysostosis, type 2

GENE

MESP2

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Steroid-resistant nephrotic syndrome

GENE

NPHS2

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Tyrosine hydroxylase deficiency (Segawa syndrome)

GENE

TH

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Tyrosinemia, type 2

GENE

TAT

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Usher syndrome, type 1B

GENE

MYO7A

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Usher syndrome, type 1C

GENE

USH1C

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Usher syndrome, type 1D

GENE

CDH23

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Zellweger spectrum disorder, PEX1-related

GENE

PEX1

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

DISEASE CONDITION

Zellweger spectrum disorder, PEX6-related

GENE

PEX6

QHERIT (22 conditions) Test code: 94372

No

QHERIT PLUS (84 conditions) Test code: Female: 39867 Male: 39988

No

QHERIT EXTENDED (150 conditions) Test code: Female: 39866 Male: 39987

Yes

While we offer a comprehensive testing, some patients may have an interest in screening for a specific disorder, such as cystic fibrosis. For these patients, Quest Diagnostics offers single-gene screening. Consultation available on genetic test selection and results interpretation 1.866.GENE.INFO (1.866.436.3463).

Please note that Quest offers a variety of single gene and gene panel testing. For the genetic panel noted in this document, there may be single gene tests or smaller panels that may be applicable for your patient. Refer to the Quest Diagnostics Test Directory for further information,

a Data on file. Quest Diagnostics; 2020

b Designated X-linked diseases (6 total).

Test codes may vary by location. Please contact your local laboratory for more information.

Image content features models and is intended for illustrative purposes only.