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 screening and actionable results are essential.
Relevant results. Confident care.*
Designed with the guideline from the American College of Obstetricians and Gynecologists (ACOG) in mind, Quest’s experienced genetic counselors and scientists developed 3 pan-ethnic QHerit carrier screens to provide you with the level of testing that is medically appropriate for each patient.
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.
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 provides medically appropriate and accessible information that you and your patients need to optimize prenatal care decisions.
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
Choose Quest for the carrier screening you and your patients can count on*
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:
QHERIT EXTENDED
(150 conditions)
Test code:
DISEASE CONDITION
Alpha-thalassemia
GENE
HBA1/HBA2
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Beta-hemoglobinopathies (including sickle cell disease)
GENE
HBB
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Bloom syndrome
GENE
BLM
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Canavan disease
GENE
ASPA
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Cystic fibrosis
GENE
CFTR
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Dihydrolipoamide dehydrogenase deficiency
GENE
DLD
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Familial dysautomia
GENE
IKBKAP
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Familial hyperinsulinism, ABCC8-related
GENE
ABCC8
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Fanconi anemia, type C
GENE
FANCC
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Fragile X syndromeb
GENE
FMR1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Gaucher disease
GENE
GBA
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Glycogen storage disease, type 1A
GENE
G6PC
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Joubert syndrome 2
GENE
TMEM216
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Maple syrup urine disease, 1B
GENE
BCKDHB
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Mucolipidosis, type 4
GENE
MCOLN1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Nemaline myopathy
GENE
NEB
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Niemann-Pick disease, types A & B
GENE
SMPD1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Spinal muscular atrophy
GENE
SMN
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Tay-Sachs disease
GENE
HEXA
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Usher syndrome, type 1F
GENE
PCDH15
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Usher syndrome, type 3A
GENE
CLRN1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Walker-Warburg syndrome
GENE
FKTN
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Abetalipoproteinemia
GENE
MTTP
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Adrenoleukodystrophy, X-linkedb
GENE
ABCD1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Argininosuccinic aciduria
GENE
ASL
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Ataxia-telangiectasia (A-T)
GENE
ATM
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Autosomal recessive polycystic kidney disease (ARPKD)
GENE
PKHD1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Bardet-Biedl syndrome, BBS1-related
GENE
BBS1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Bardet-Biedl syndrome, BBS2-related
GENE
BBS2
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Biotinidase deficiency
GENE
BTD
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Carnitine palmitoyltransferase II deficiency
GENE
CPT2
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Cerebrotendinous xanthomatosis (CTX)
GENE
CYP27A1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Citrullinemia, type 1
GENE
ASS1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Combined pituitary hormone deficiency
GENE
PROP1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Congenital amegakaryocytic thrombocytopenia
GENE
MPL
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Congenital disorder of glycosylation, type 1A
GENE
PMM2
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Cystinosis
GENE
CTNS
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
D-bifunctional protein deficiency
GENE
HSD17B4
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Factor XI deficiency
GENE
F11
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Familial Mediterranean fever
GENE
MEFV
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Galactosemia, GALT-related
GENE
GALT
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Glutaric acidemia, type 1
GENE
GCDH
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Glycogen storage disease, type 2 (Pompe disease)
GENE
GAA
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Glycogen storage disease, type 3 (Cori disease)
GENE
AGL
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Glycogen storage disease, type 4
GENE
GBE1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
GRACILE syndrome (Fellman syndrome)
GENE
BCS1L
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Hereditary fructose intolerance
GENE
ALDOB
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Hermansky-Pudlak syndrome, HPS1-related
GENE
HPS1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Hermansky-Pudlak syndrome, HPS3-related
GENE
HPS3
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Hypophosphatasia
GENE
ALPL
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Krabbe disease
GENE
GALC
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Limb-girdle muscular dystrophy, type 2A
GENE
CAPN3
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Limb-girdle muscular dystrophy, type 2D
GENE
SGCA
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
GENE
HADHA
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Maple syrup urine disease, 1A
GENE
BCKDHA
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Medium chain Acyl-CoA dehydrogenase deficiency (MCAD deficiency)
GENE
ACADM
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Metachromatic leukodystrophy
GENE
ARSA
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Methylmalonic aciduria and homocystinuria, type CBIC
GENE
MMACHC
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Mucolipidosis, type 2 and 3, GNPTAB-related
GENE
GNPTAB
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Mucopolysaccharidosis, type I (Hurler syndrome)
GENE
IDUA
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Mucopolysaccharidosis, Type 3A (Sanfilippo syndrome A)
GENE
SGSH
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Nephrotic syndrome, NPHS1-related (congenital Finnish nephrosis)
GENE
NPHS1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Neuronal ceroid-lipofuscinosis, CLN3-related
GENE
CLN3
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Neuronal ceroid-lipofuscinosis, CLN5-related
GENE
CLN5
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Neuronal ceroid-lipofuscinosis, CLN8-related
GENE
CLN8
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Neuronal ceroid-lipofuscinosis, PPT1-related
GENE
PPT1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Neuronal ceroid-lipofuscinosis, TPP1-related
GENE
TPP1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Nijmegen breakage syndrome
GENE
NBN
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Nonsyndromic hearing loss, GJB2-related
GENE
GJB2
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Ornithine transcarbamylase deficiency, X-linkedb
GENE
OTC
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Pendred syndrome and DFNB4 hearing loss
GENE
SLC26A4
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Phenylketonuria (PKU)
GENE
PAH
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Primary hyperoxaluria type 1 (PH1)
GENE
AGXT
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Propionic acidemia, PCCA-related
GENE
PCCA
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Propionic acidemia, PCCB-related
GENE
PCCB
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Sjögren-Larsson syndrome
GENE
ALDH3A2
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Skeletal dysplasias, SLC26A2-related
GENE
SLC26A2
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Smith-Lemli-Opitz syndrome
GENE
DHCR7
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Systemic primary carnitine deficiency
GENE
SLC22A5
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Tyrosinemia, type 1
GENE
FAH
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Usher syndrome, type 2A
GENE
USH2A
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
GENE
ACADVL
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Wilson disease
GENE
ATP7B
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Zellweger spectrum disorder, PEX2-related
GENE
PEX2
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
3-ketothiolase deficiency
GENE
ACAT1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
3-methylcrotonyl-CoA carboxylase deficiency, type 1
GENE
MCCC1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
3-methylcrotonyl-CoA carboxylase deficiency, type 2
GENE
MCCC2
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
6-pyruvoyl-tetrahydropterin synthase deficiency
GENE
PTS
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Adenosine deaminase deficiency
GENE
ADA
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Alpha-mannosidosis
GENE
MAN2B1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Alport syndrome, COL4A3-related
GENE
COL4A3
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Alport syndrome, COL4A4-related
GENE
COL4A4
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Alport syndrome, COL4A5-related, X-linkedb
GENE
COL4A5
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Andermann syndrome
GENE
SLC12A6
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Arthrogryposis, mental retardation, and seizures
GENE
SLC35A3
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Aspartylglycosaminuria
GENE
AGA
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
ATP7A-related disorders (Menkes disease, Occipital horn syndrome), X-linkedb
GENE
ATP7A
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Autoimmune polyglandular syndrome, type 1
GENE
AIRE
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
GENE
SACS
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Bardet-Biedl syndrome, BBS10-related
GENE
BBS10
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Cartilage-hair hypoplasia
GENE
RMRP
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Congenital muscular dystrophy, type 1A
GENE
LAMA2
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Deafness, autosomal recessive 77
GENE
LOXHD1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Dyskeratosis congenita (RTEL1)
GENE
RTEL1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Familial hyperinsulinism
GENE
KCNJ11
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Fanconi anemia group A
GENE
FANCA
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Glycine encephalopathy, AMT-related
GENE
AMT
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Glycine encephalopathy, GLDC-related
GENE
GLDC
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Glycogen storage disease, type 1B
GENE
SLC37A4
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
GM1 gangliosidosis and mucopolysaccharidosis type 4B, Morquio Syndrome
GENE
GLB1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
HMG-CoA lyase deficiency, HL deficiency
GENE
HMGCL
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Holocarboxylase synthetase deficiency
GENE
HLCS
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Homocystinuria, CBS-related
GENE
CBS
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Hydrolethalus syndrome
GENE
HYLS1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Inclusion body myopathy 2
GENE
GNE
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Infantile cerebral and cerebellar atrophy (MED17)
GENE
MED17
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Isovaleric acidemia
GENE
IVD
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Junctional epidermolysis bullosa, LAMA3-related
GENE
LAMA3
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Junctional epidermolysis bullosa, LAMB3-related
GENE
LAMB3
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Junctional epidermolysis bullosa, LAMC2-related
GENE
LAMC2
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Lamellar ichthyosis, type 1
GENE
TGM1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Leber congenital amaurosis, type CEP290
GENE
CEP290
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Leigh syndrome, French Canadian type
GENE
LRPPRC
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Lethal congenital contracture syndrome 1
GENE
GLE1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Limb-girdle muscular dystrophy, type 2E
GENE
SGCB
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Lysinuric protein intolerance
GENE
SLC7A7
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Maple syrup urine disease, type 2
GENE
DBT
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Methylmalonic acidemia, MMAA-related
GENE
MMAA
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Methylmalonic acidemia, MMAB-related
GENE
MMAB
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Methylmalonic acidemia, MUT-related
GENE
MUT
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Mucopolysaccharidosis, type 2, Hunter syndromeb
GENE
IDS
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Mucopolysaccharidosis, type 3B (Sanfilippo B)
GENE
NAGLU
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Mucopolysaccharidosis, type 3C (Sanfilippo C)
GENE
HGSNAT
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Mucopolysaccharidosis, type 3D (Sanfilippo D)
GENE
GNS
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Mucopolysaccharidosis, Type 6, Maroteaux-Lamy Syndrome
GENE
ARSB
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Neuronal ceroid lipofuscinosis, CLN6-related
GENE
CLN6
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Niemann-Pick type C1/D (Nova Scotia type)
GENE
NPC1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Pyruvate carboxylase deficiency
GENE
PC
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Retinitis pigmentosa 59 - autosomal recessive
GENE
DHDDS
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Rhizomelic chondrodysplasia punctata, type 1
GENE
PEX7
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Sandhoff disease
GENE
HEXB
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Spondylothoracic dysostosis, type 2
GENE
MESP2
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Steroid-resistant nephrotic syndrome
GENE
NPHS2
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Tyrosine hydroxylase deficiency (Segawa syndrome)
GENE
TH
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Tyrosinemia, type 2
GENE
TAT
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Usher syndrome, type 1B
GENE
MYO7A
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Usher syndrome, type 1C
GENE
USH1C
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Usher syndrome, type 1D
GENE
CDH23
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Zellweger spectrum disorder, PEX1-related
GENE
PEX1
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
DISEASE CONDITION
Zellweger spectrum disorder, PEX6-related
GENE
PEX6
QHERIT (22 conditions) Test code: 94372
QHERIT PLUS (84 conditions) Test code:
QHERIT EXTENDED (150 conditions) Test code:
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 Based on Quest Diagnostics 2021 fiscal year national claims analysis.
b Designated X-linked diseases (6 total).
* QHerit, QHerit Plus, and QHerit Extended are carrier “screening” tests, and they screen for variations in genes linked to certain health disorders, which can be passed from parents to children. QHerit screens 22 genes; QHerit Plus screens 85 genes; and QHerit Extended screens 150 genes. If the results from any panel in the QHerit family suggest that a patient may be a carrier of a gene variation that can cause a health disorder in her offspring, it is recommended that her reproductive partner be offered genetic screening, and that genetic counseling be provided. Pregnancy management decisions should not be based on the results of these screening tests alone. As with any test, there may be false positives or false negatives. The positive predictive value of the screening test varies by genetic variation, and may be lower for rare conditions. Each panel in the QHerit family is a laboratory developed test that has been developed and validated, pursuant to the Clinical Laboratory Improvements Amendments of 1988 (CLIA), and as such it has not been reviewed by FDA.
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.
Genetic consultation available
Certified genetic counselors are available to help with test selection and results interpretation 1.866.GENE.INFO (1.866.436.3463).
