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Home > QHerit® carrier screening

QHerit® carrier screening

Broad portfolio of clinically relevant, right-sized solutions for patients

As patients consider starting a family, they may want to have a better understanding of their genetic makeup, and whether they are at increased risk of passing along a genetic variant to their children. Genetic carrier screening is a crucial tool to help couples have a better understanding of risk and guide their family planning decisions.

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Relevant results, confident care.*

As part of our commitment to provide clinically relevant, right-sized solutions, our QHerit® product portfolio has been designed to help you understand your patient’s genetic risks and support family planning discussions.

Ever-evolving, our QHerit panels are designed with the American College of Obstetricians and Gynecologists (ACOG) guidelines and the American College of Medical Genetics and Genomics (ACMG) practice resource in mind. We currently offer 4 screening panel options for up to 421 diseases to help you to select a medically appropriate panel based on your patient’s needs.

Pan-ethnic carrier screening with QHerit

Pan-ethnic carrier screening with QHerit

80%
of insured patients pay less than $25a
80%
80%
of insured patients pay less than $25a

Pan-ethnic carrier screening with QHerit

Pan-ethnic carrier screening with QHerit

QHerit panel optionsb
Panel size:

22 diseases
24 genes

84 diseasesc
85 genes

150 diseasesc
150 genes

421 diseasesc
421 genes

Screens for:

The most common diseases, including cystic fibrosis (CF), spinal muscular atrophy (SMA), fragile X, and Tay-Sachs

View genes

A midsize panel that expands upon the most common diseases

View genes

Expands upon our midsized panel with medically guided screening

View genes

Our most comprehensive panel, offering the greatest insights

View genes

Test code:
94372

Female: 39867

Male: 39988c

Female: 39866

Male: 39987c

Female: 12593

Male: 12594c

QHerit panel optionsb
Panel size:

22 diseases
24 genes

Screens for:

The most common diseases, including cystic fibrosis (CF), spinal muscular atrophy (SMA), fragile X, and Tay-Sachs

View genes

Test code:
94372
Panel size:

84 diseasesc
85 genes

Screens for:

A midsize panel that expands upon the most common diseases

View genes

Test code:

Female: 39867

Male: 39988c

Panel size:

150 diseasesc
150 genes

Screens for:

Expands upon our midsized panel with medically guided screening

View genes

Test code:

Female: 39866

Male: 39987c

Panel size:

421 diseasesc
421 genes

Screens for:

Our most comprehensive panel, offering the greatest insights

View genes

Test code:

Female: 12593

Male: 12594c

a Based on Quest Diagnostics 2021 fiscal year national claims analysis.
b QHerit panels are screening tests. QHerit does not diagnose a disease or disorder.
c Panel components for males do not include specified X-linked diseases.

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.

Empowering you and your patients to optimize family planning decisions

At Quest Advanced® Women’s Health, we understand that you and your patients depend on these results for family planning and care. QHerit provides medically appropriate and clinically relevant insights that you and your patients need to help plan their futures.

Screens only for conditions that have actionable medical recommendations
Next-generation sequencing ensures accuracy across a greater number of genes*
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 genes*
Appropriate for all women and couples, regardless of ethnicity

Genetic testing that’s accessible and affordable

We believe cost shouldn’t be a barrier to care. We are committed to keeping costs low so that more patients, regardless of their financial status, can access the screening they need.

  • In-network for > 90% of lives nationwided and preferred lab network status with major health plans, including Aetna®, Horizon®, and UnitedHealthcare®
  • QHerit No Surprise program helps determine prior authorization requirements and limits patients’ out-of-pocket responsibility to $300
  • QHerit Supplemental Financial Assistance program is available for both insured and uninsured patients who qualify
80%
of insured patients pay less than $25a
80%
of insured patients pay less than $25a

a Based on Quest Diagnostics 2021 fiscal year national claims analysis.

d This is directional data. It is based on 2020 HealthLeaders membership data of private third-party payers at the Managed Care Organization (MCO) level, as well as Quest internal data. Information is believed to be accurate as of January 1, 2020; however, it is subject to change. Does not include Kaiser Permanente access data.

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

3,500+ tests, including a comprehensive portfolio of solutions throughout the reproductive journey: fertility testing, carrier screening, prenatal screening and diagnostic insights, and lab tests for each trimester
An innovative leader with 40+ years of experience in genetic testing, so you can be confident in our solutions and services to help meet your patient’s needs
650+ MDs, PhDs, and dozens of genetic counselors to help with test selection and results interpretation, making testing more actionable
Board-certified genetic counselors available for consultations at 1.866.GENE.INFO (1.866.436.3463)

Visit the Test Directory to review the QHerit carrier screening panel options for your patients

Genes and diseases included in QHerit®carrier screen panels

Alpha-thalassemia(HBA1/HBA2)

Beta hemoglobinopathies(HBB)

Bloom syndrome(BLM)

Canavan disease(ASPA)

Cystic fibrosis(CFTR)

Dihydrolipoamide dehydrogenase deficiency(DLD)

Familial dysautonomia(ELP1 (AKA:IKBKAP))

Familial hyperinsulinism, ABCC8-related(ABCC8)

Fanconi anemia, Group C(FANCC)

Fragile X syndromee(FMR1)

Gaucher disease(GBA)

Glycogen storage disease, type Ia(G6PC (AKA:G6PC1))

Joubert syndrome 2(TMEM216)

Maple syrup urine disease, type 1B(BCKDHB)

Mucolipidosis, type IV(MCOLN1)

Nemaline myopathy 2(NEB)

Niemann-Pick disease, types A/B(SMPD1)

Spinal muscular atrophy(SMN1)

Tay-Sachs disease(HEXA)

Usher syndrome, type 1F(PCDH15)

Usher syndrome, type 3A(CLRN1)

Fukuyama congenital muscular dystrophy (Walker-Warburg)(FKTN)

Alpha-thalassemia(HBA1/HBA2)

Beta hemoglobinopathies(HBB)

Bloom syndrome(BLM)

Canavan disease(ASPA)

Cystic fibrosis(CFTR)

Dihydrolipoamide dehydrogenase deficiency(DLD)

Familial dysautonomia(ELP1 (AKA:IKBKAP))

Familial hyperinsulinism, ABCC8-related(ABCC8)

Fanconi anemia, Group C(FANCC)

Fragile X syndromee(FMR1)

Gaucher disease(GBA)

Glycogen storage disease, type Ia(G6PC (AKA:G6PC1))

Joubert syndrome 2(TMEM216)

Maple syrup urine disease, type 1B(BCKDHB)

Mucolipidosis, type IV(MCOLN1)

Nemaline myopathy 2(NEB)

Niemann-Pick disease, types A/B(SMPD1)

Spinal muscular atrophy(SMN1)

Tay-Sachs disease(HEXA)

Usher syndrome, type 1F(PCDH15)

Usher syndrome, type 3A(CLRN1)

Fukuyama congenital muscular dystrophy (Walker-Warburg)(FKTN)

Abetalipoproteinemia(MTTP)

Adrenoleukodystrophy, X-linkede(ABCD1)

Argininosuccinic aciduria(ASL)

Ataxia-telangiectasia(ATM)

Autosomal recessive polycystic kidney disease(PKHD1)

Bardet-Biedl syndrome 1(BBS1)

Bardet-Biedl syndrome 2(BBS2)

Biotinidase deficiency(BTD)

Carnitine palmitoyltransferase II deficiency(CPT2)

Cerebrotendinous xanthomatosis(CYP27A1)

Citrullinemia, type I(ASS1)

Combined pituitary hormone deficiency, type 2(PROP1)

Congenital amegakaryocytic thrombocytopenia(MPL)

Congenital disorder of glycosylation, type Ia(PMM2)

Cystinosis(CTNS)

D-bifunctional protein deficiency(HSD17B4)

Factor XI deficiency / Hemophilia C(F11)

Familial Mediterranean fever(MEFV)

Galactosemia(GALT)

Glutaric acidemia, type I(GCDH)

Glycogen storage disease, type II / Pompe disease(GAA)

Glycogen storage disease, type III(AGL)

Glycogen storage disease, type IV / Adult polyglucosan body disease(GBE1)

GRACILE syndrome(BCS1L)

Hereditary fructose intolerance(ALDOB)

Hermansky-Pudlak syndrome, type 1(HPS1)

Hermansky-Pudlak syndrome, type 3(HPS3)

Hypophosphatasia(ALPL)

Krabbe disease(GALC)

Limb-girdle muscular dystrophy, type 2A(CAPN3)

Limb-girdle muscular dystrophy, type 3(SGCA)

Long chain 3-hydroxyacyl-coa dehydrogenase deficiency(HADHA)

Maple syrup urine disease, type 1A(BCKDHA)

Medium chain acyl-CoA dehydrogenase deficiency(ACADM)

Metachromatic leukodystrophy, ARSA-related(ARSA)

Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency(MMACHC)

Mucolipidosis II and mucolipidosis III alpha/beta(GNPTAB)

Mucopolysaccharidosis, type I / Hurler syndrome(IDUA)

Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A(SGSH)

Steroid resistant nephrotic syndrome, type 1(NPHS1)

Neuronal ceroid lipofuscinosis, CLN3-related(CLN3)

Neuronal ceroid lipofuscinosis, CLN5-related(CLN5)

Neuronal ceroid lipofuscinosis, CLN8-related(CLN8)

Neuronal ceroid lipofuscinosis, PPT1-related(PPT1)

Neuronal ceroid lipofuscinosis, TPP1-related(TPP1)

Nijmegen breakage syndrome(NBN)

Nonsyndromic hearing loss and deafness (DFNB) 1(GJB2)

Ornithine transcarbamylase deficiency, X-linkede(OTC)

Pendred syndrome(SLC26A4)

Phenylalanine hydroxylase deficiency(PAH)

Primary hyperoxaluria, type I(AGXT)

Propionic acidemia, PCCA-related(PCCA)

Propionic acidemia, PCCB-related(PCCB)

Sjögren-Larsson syndrome(ALDH3A2)

Skeletal dysplasias, SLC26A2-related(SLC26A2)

Smith-Lemli-Opitz syndrome(DHCR7)

Carnitine deficiency, systemic primary(SLC22A5)

Tyrosinemia, type I(FAH)

Usher syndrome, type 2A(USH2A)

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

Wilson disease(ATP7B)

Zellweger spectrum disorders, PEX2-related(PEX2)

Alpha-thalassemia(HBA1/HBA2)

Beta hemoglobinopathies(HBB)

Bloom syndrome(BLM)

Canavan disease(ASPA)

Cystic fibrosis(CFTR)

Dihydrolipoamide dehydrogenase deficiency(DLD)

Familial dysautonomia(ELP1 (AKA:IKBKAP))

Familial hyperinsulinism, ABCC8-related(ABCC8)

Fanconi anemia, Group C(FANCC)

Fragile X syndromee(FMR1)

Gaucher disease(GBA)

Glycogen storage disease, type Ia(G6PC (AKA:G6PC1))

Joubert syndrome 2(TMEM216)

Maple syrup urine disease, type 1B(BCKDHB)

Mucolipidosis, type IV(MCOLN1)

Nemaline myopathy 2(NEB)

Niemann-Pick disease, types A/B(SMPD1)

Spinal muscular atrophy(SMN1)

Tay-Sachs disease(HEXA)

Usher syndrome, type 1F(PCDH15)

Usher syndrome, type 3A(CLRN1)

Fukuyama congenital muscular dystrophy (Walker-Warburg)(FKTN)

Abetalipoproteinemia(MTTP)

Adrenoleukodystrophy, X-linkede(ABCD1)

Argininosuccinic aciduria(ASL)

Ataxia-telangiectasia(ATM)

Autosomal recessive polycystic kidney disease(PKHD1)

Bardet-Biedl syndrome 1(BBS1)

Bardet-Biedl syndrome 2(BBS2)

Biotinidase deficiency(BTD)

Carnitine palmitoyltransferase II deficiency(CPT2)

Cerebrotendinous xanthomatosis(CYP27A1)

Citrullinemia, type I(ASS1)

Combined pituitary hormone deficiency, type 2(PROP1)

Congenital amegakaryocytic thrombocytopenia(MPL)

Congenital disorder of glycosylation, type Ia(PMM2)

Cystinosis(CTNS)

D-bifunctional protein deficiency(HSD17B4)

Factor XI deficiency / Hemophilia C(F11)

Familial Mediterranean fever(MEFV)

Galactosemia(GALT)

Glutaric acidemia, type I(GCDH)

Glycogen storage disease, type II / Pompe disease(GAA)

Glycogen storage disease, type III(AGL)

Glycogen storage disease, type IV / Adult polyglucosan body disease(GBE1)

GRACILE syndrome(BCS1L)

Hereditary fructose intolerance(ALDOB)

Hermansky-Pudlak syndrome, type 1(HPS1)

Hermansky-Pudlak syndrome, type 3(HPS3)

Hypophosphatasia(ALPL)

Krabbe disease(GALC)

Limb-girdle muscular dystrophy, type 2A(CAPN3)

Limb-girdle muscular dystrophy, type 3(SGCA)

Long chain 3-hydroxyacyl-coa dehydrogenase deficiency(HADHA)

Maple syrup urine disease, type 1A(BCKDHA)

Medium chain acyl-CoA dehydrogenase deficiency(ACADM)

Metachromatic leukodystrophy, ARSA-related(ARSA)

Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency(MMACHC)

Mucolipidosis II and mucolipidosis III alpha/beta(GNPTAB)

Mucopolysaccharidosis, type I / Hurler syndrome(IDUA)

Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A(SGSH)

Steroid resistant nephrotic syndrome, type 1(NPHS1)

Neuronal ceroid lipofuscinosis, CLN3-related(CLN3)

Neuronal ceroid lipofuscinosis, CLN5-related(CLN5)

Neuronal ceroid lipofuscinosis, CLN8-related(CLN8)

Neuronal ceroid lipofuscinosis, PPT1-related(PPT1)

Neuronal ceroid lipofuscinosis, TPP1-related(TPP1)

Nijmegen breakage syndrome(NBN)

Nonsyndromic hearing loss and deafness (DFNB) 1(GJB2)

Ornithine transcarbamylase deficiency, X-linkede(OTC)

Pendred syndrome(SLC26A4)

Phenylalanine hydroxylase deficiency(PAH)

Primary hyperoxaluria, type I(AGXT)

Propionic acidemia, PCCA-related(PCCA)

Propionic acidemia, PCCB-related(PCCB)

Sjögren-Larsson syndrome(ALDH3A2)

Skeletal dysplasias, SLC26A2-related(SLC26A2)

Smith-Lemli-Opitz syndrome(DHCR7)

Carnitine deficiency, systemic primary(SLC22A5)

Tyrosinemia, type I(FAH)

Usher syndrome, type 2A(USH2A)

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

Wilson disease(ATP7B)

Zellweger spectrum disorders, PEX2-related(PEX2)

Beta-ketothiolase deficiency(ACAT1)

3-methylcrotonyl-CoA carboxylase 1 deficiency(MCCC1)

3-methylcrotonyl-CoA carboxylase 2 deficiency(MCCC2)

6-pyruvoyl-tetrahydropterin synthase deficiency(PTS)

Adenosine deaminase deficiency(ADA)

Alpha-mannosidosis(MAN2B1)

Alport syndrome, COL4A3-related(COL4A3)

Alport syndrome, COL4A4-related(COL4A4)

Alport syndrome, COL4A5-related, X-linkede(COL4A5)

Agenesis of the corpus callosum with peripheral neuropathy(SLC12A6)

Arthrogryposis, mental retardation, and seizures(SLC35A3)

Aspartylglycosaminuria(AGA)

Menkes diseasee(ATP7A)

Autoimmune polyglandular syndrome, type 1(AIRE)

Spastic ataxia, Charlevoix-Saguenay type(SACS)

Bardet-Biedl syndrome 10(BBS10)

Cartilage-hair hypoplasia(RMRP)

LAMA2 muscular dystrophy(LAMA2)

Nonsyndromic hearing loss and deafness (DFNB) 77(LOXHD1)

Dyskeratosis congenita, RTEL1-related(RTEL1)

Fanconi anemia, Group A(FANCA)

Glycine encephalopathy, AMT-related(AMT)

Glycine encephalopathy / Nonketotic hyperglycinemia(GLDC)

Glycogen storage disease, type Ib / IIw(SLC37A4)

GLB1-related disorders(GLB1)

3-hydroxy-3-methylglutaryl-coA lyase deficiency(HMGCL)

Holocarboxylase synthetase deficiency(HLCS)

Homocystinuria, CBS-related(CBS)

Hydrolethalus syndrome(HYLS1)

GNE myopathy(GNE)

Infantile cerebral and cerebellar atrophy(MED17)

Isovaleric acidemia(IVD)

Junctional epidermolysis bullosa, LAMA3-related(LAMA3)

Junctional epidermolysis bullosa, LAMB3-related(LAMB3)

Junctional epidermolysis bullosa, LAMC2-related(LAMC2)

Autosomal recessive congenital ichthyosis 1(TGM1)

CEP290-related conditions(CEP290)

Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type(LRPPRC)

Lethal congenital contracture syndrome 1(GLE1)

Limb-girdle muscular dystrophy, type 4(SGCB)

Lysinuric protein intolerance(SLC7A7)

Maple syrup urine disease, type 2(DBT)

Methylmalonic aciduria, MMAA-related(MMAA)

Methylmalonic aciduria, MMAB-related(MMAB)

Methylmalonic aciduria, MUT-related(MMUT (AKA:MUT))

Mucopolysaccharidosis, type II / Hunter syndromee(IDS)

Mucopolysaccharidosis, type IIIB / Sanfilippo syndrome B(NAGLU)

Mucopolysaccharidosis, type IIIC / Sanfilippo syndrome C(HGSNAT)

Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D(GNS)

Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome(ARSB)

Neuronal ceroid lipofuscinosis, CLN6-related(CLN6)

Niemann-Pick disease, type C1(NPC1)

Pyruvate carboxylase deficiency(PC)

Retinitis pigmentosa 59(DHDDS)

Rhizomelic chondrodysplasia punctata, type 1(PEX7)

Sandhoff disease(HEXB)

Spondylothoracic dysostosis and spondylocostal dysostosis 2(MESP2)

Steroid-resistant nephrotic syndrome, type 2(NPHS2)

Tyrosine hydroxylase deficiency(TH)

Tyrosinemia, type II(TAT)

Usher syndrome, type 1B(MYO7A)

Usher syndrome, type 1C(USH1C)

Usher syndrome, type 1D(CDH23)

Zellweger spectrum disorders, PEX1-related(PEX1)

Zellweger spectrum disorders, PEX6-related(PEX6)

Alpha-thalassemia(HBA1/HBA2)

Beta hemoglobinopathies(HBB)

Bloom syndrome(BLM)

Canavan disease(ASPA)

Cystic fibrosis(CFTR)

Dihydrolipoamide dehydrogenase deficiency(DLD)

Familial dysautonomia(ELP1 (AKA:IKBKAP))

Familial hyperinsulinism, ABCC8-related(ABCC8)

Fanconi anemia, Group C(FANCC)

Fragile X syndromee(FMR1)

Gaucher disease(GBA)

Glycogen storage disease, type Ia(G6PC (AKA:G6PC1))

Joubert syndrome 2(TMEM216)

Maple syrup urine disease, type 1B(BCKDHB)

Mucolipidosis, type IV(MCOLN1)

Nemaline myopathy 2(NEB)

Niemann-Pick disease, types A/B(SMPD1)

Spinal muscular atrophy(SMN1)

Tay-Sachs disease(HEXA)

Usher syndrome, type 1F(PCDH15)

Usher syndrome, type 3A(CLRN1)

Fukuyama congenital muscular dystrophy (Walker-Warburg)(FKTN)

Abetalipoproteinemia(MTTP)

Adrenoleukodystrophy, X-linkede(ABCD1)

Argininosuccinic aciduria(ASL)

Ataxia-telangiectasia(ATM)

Autosomal recessive polycystic kidney disease(PKHD1)

Bardet-Biedl syndrome 1(BBS1)

Bardet-Biedl syndrome 2(BBS2)

Biotinidase deficiency(BTD)

Carnitine palmitoyltransferase II deficiency(CPT2)

Cerebrotendinous xanthomatosis(CYP27A1)

Citrullinemia, type I(ASS1)

Combined pituitary hormone deficiency, type 2(PROP1)

Congenital amegakaryocytic thrombocytopenia(MPL)

Congenital disorder of glycosylation, type Ia(PMM2)

Cystinosis(CTNS)

D-bifunctional protein deficiency(HSD17B4)

Factor XI deficiency / Hemophilia C(F11)

Familial Mediterranean fever(MEFV)

Galactosemia(GALT)

Glutaric acidemia, type I(GCDH)

Glycogen storage disease, type II / Pompe disease(GAA)

Glycogen storage disease, type III(AGL)

Glycogen storage disease, type IV / Adult polyglucosan body disease(GBE1)

GRACILE syndrome(BCS1L)

Hereditary fructose intolerance(ALDOB)

Hermansky-Pudlak syndrome, type 1(HPS1)

Hermansky-Pudlak syndrome, type 3(HPS3)

Hypophosphatasia(ALPL)

Krabbe disease(GALC)

Limb-girdle muscular dystrophy, type 2A(CAPN3)

Limb-girdle muscular dystrophy, type 3(SGCA)

Long chain 3-hydroxyacyl-coa dehydrogenase deficiency(HADHA)

Maple syrup urine disease, type 1A(BCKDHA)

Medium chain acyl-CoA dehydrogenase deficiency(ACADM)

Metachromatic leukodystrophy, ARSA-related(ARSA)

Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency(MMACHC)

Mucolipidosis II and mucolipidosis III alpha/beta(GNPTAB)

Mucopolysaccharidosis, type I / Hurler syndrome(IDUA)

Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A(SGSH)

Steroid resistant nephrotic syndrome, type 1(NPHS1)

Neuronal ceroid lipofuscinosis, CLN3-related(CLN3)

Neuronal ceroid lipofuscinosis, CLN5-related(CLN5)

Neuronal ceroid lipofuscinosis, CLN8-related(CLN8)

Neuronal ceroid lipofuscinosis, PPT1-related(PPT1)

Neuronal ceroid lipofuscinosis, TPP1-related(TPP1)

Nijmegen breakage syndrome(NBN)

Nonsyndromic hearing loss and deafness (DFNB) 1(GJB2)

Ornithine transcarbamylase deficiency, X-linkede(OTC)

Pendred syndrome(SLC26A4)

Phenylalanine hydroxylase deficiency(PAH)

Primary hyperoxaluria, type I(AGXT)

Propionic acidemia, PCCA-related(PCCA)

Propionic acidemia, PCCB-related(PCCB)

Sjögren-Larsson syndrome(ALDH3A2)

Skeletal dysplasias, SLC26A2-related(SLC26A2)

Smith-Lemli-Opitz syndrome(DHCR7)

Carnitine deficiency, systemic primary(SLC22A5)

Tyrosinemia, type I(FAH)

Usher syndrome, type 2A(USH2A)

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

Wilson disease(ATP7B)

Zellweger spectrum disorders, PEX2-related(PEX2)

Beta-ketothiolase deficiency(ACAT1)

3-methylcrotonyl-CoA carboxylase 1 deficiency(MCCC1)

3-methylcrotonyl-CoA carboxylase 2 deficiency(MCCC2)

6-pyruvoyl-tetrahydropterin synthase deficiency(PTS)

Adenosine deaminase deficiency(ADA)

Alpha-mannosidosis(MAN2B1)

Alport syndrome, COL4A3-related(COL4A3)

Alport syndrome, COL4A4-related(COL4A4)

Alport syndrome, COL4A5-related, X-linkede(COL4A5)

Agenesis of the corpus callosum with peripheral neuropathy(SLC12A6)

Arthrogryposis, mental retardation, and seizures(SLC35A3)

Aspartylglycosaminuria(AGA)

Menkes diseasee(ATP7A)

Autoimmune polyglandular syndrome, type 1(AIRE)

Spastic ataxia, Charlevoix-Saguenay type(SACS)

Bardet-Biedl syndrome 10(BBS10)

Cartilage-hair hypoplasia(RMRP)

LAMA2 muscular dystrophy(LAMA2)

Nonsyndromic hearing loss and deafness (DFNB) 77(LOXHD1)

Dyskeratosis congenita, RTEL1-related(RTEL1)

Fanconi anemia, Group A(FANCA)

Glycine encephalopathy, AMT-related(AMT)

Glycine encephalopathy / Nonketotic hyperglycinemia(GLDC)

Glycogen storage disease, type Ib / IIw(SLC37A4)

GLB1-related disorders(GLB1)

3-hydroxy-3-methylglutaryl-coA lyase deficiency(HMGCL)

Holocarboxylase synthetase deficiency(HLCS)

Homocystinuria, CBS-related(CBS)

Hydrolethalus syndrome(HYLS1)

GNE myopathy(GNE)

Infantile cerebral and cerebellar atrophy(MED17)

Isovaleric acidemia(IVD)

Junctional epidermolysis bullosa, LAMA3-related(LAMA3)

Junctional epidermolysis bullosa, LAMB3-related(LAMB3)

Junctional epidermolysis bullosa, LAMC2-related(LAMC2)

Autosomal recessive congenital ichthyosis 1(TGM1)

CEP290-related conditions(CEP290)

Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type(LRPPRC)

Lethal congenital contracture syndrome 1(GLE1)

Limb-girdle muscular dystrophy, type 4(SGCB)

Lysinuric protein intolerance(SLC7A7)

Maple syrup urine disease, type 2(DBT)

Methylmalonic aciduria, MMAA-related(MMAA)

Methylmalonic aciduria, MMAB-related(MMAB)

Methylmalonic aciduria, MUT-related(MMUT (AKA:MUT))

Mucopolysaccharidosis, type II / Hunter syndromee(IDS)

Mucopolysaccharidosis, type IIIB / Sanfilippo syndrome B(NAGLU)

Mucopolysaccharidosis, type IIIC / Sanfilippo syndrome C(HGSNAT)

Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D(GNS)

Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome(ARSB)

Neuronal ceroid lipofuscinosis, CLN6-related(CLN6)

Niemann-Pick disease, type C1(NPC1)

Pyruvate carboxylase deficiency(PC)

Retinitis pigmentosa 59(DHDDS)

Rhizomelic chondrodysplasia punctata, type 1(PEX7)

Sandhoff disease(HEXB)

Spondylothoracic dysostosis and spondylocostal dysostosis 2(MESP2)

Steroid-resistant nephrotic syndrome, type 2(NPHS2)

Tyrosine hydroxylase deficiency(TH)

Tyrosinemia, type II(TAT)

Usher syndrome, type 1B(MYO7A)

Usher syndrome, type 1C(USH1C)

Usher syndrome, type 1D(CDH23)

Zellweger spectrum disorders, PEX1-related(PEX1)

Zellweger spectrum disorders, PEX6-related(PEX6)

17-beta-hydroxysteroid dehydrogenase deficiency, type III(HSD17B3)

3-beta-hydroxysteroid dehydrogenase deficiency, type II(HSD3B2)

3-hydroxyacyl-CoA dehydrogenase deficiency(HADH)

3-methylglutaconic aciduria, type III / Costeff syndrome(OPA3)

Phosphoglycerate dehydrogenase deficiency(PHGDH)

Achromatopsia, CNGB3-related(CNGB3)

Acrodermatitis enteropathica(SLC39A4)

Action myoclonus renal failure syndrome(SCARB2)

Acute infantile liver failure(TRMU)

Peroxisomal acyl-CoA oxidase deficiency(ACOX1)

Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency(CYP11B1)

X-linked agammaglobulinemiae(BTK)

Aicardi-Goutieres syndrome 2(RNASEH2B)

Aicardi-Goutieres syndrome 3(RNASEH2C)

Aicardi-Goutieres syndrome 4(RNASEH2A)

Aicardi-Goutieres syndrome 5(SAMHD1)

Alpha-1 antitrypsin deficiency(SERPINA1)

Alpha-thalassemia intellectual disability syndrome, X-linkede(ATRX)

Alstrom Syndrome(ALMS1)

Amish infantile epilepsy syndrome(ST3GAL5)

Argininemia(ARG1)

Aromatase deficiency(CYP19A1)

PRPS1-related disorderse(PRPS1)

Asparagine synthetase deficiency(ASNS)

Ataxia with isolated vitamin E deficiency(TTPA)

Ataxia-telangiectasia-like disorder 1(MRE11)

Bardet-Biedl syndrome 4(BBS4)

Bardet-Biedl syndrome 6(MKKS)

Bardet-Biedl syndrome 7(BBS7)

Bardet-Biedl syndrome 8(TTC8)

Bardet-Biedl syndrome 9(BBS9)

Bardet-Biedl syndrome 12(BBS12)

Bare lymphocyte syndrome, type II(CIITA)

Barth syndromee(TAFAZZIN (AKA:TAZ))

Bartter syndrome, type 4A(BSND)

Bernard-Soulier syndrome, type A(GP1BA)

Bernard-Soulier syndrome, type C(GP9)

Beta-ureidopropionase deficiency(UPB1)

Bilateral frontoparietal polymicrogyria(ADGRG1)

Carbamoyl phosphate synthetase I deficiency(CPS1)

Carnitine palmitoyltransferase I deficiency(CPT1A)

Carnitine-acylcarnitine translocase deficiency(SLC25A20)

Carpenter syndrome(RAB23)

Neuronal ceroid lipofuscinosis, CTSD-related(CTSD)

Charcot-Marie-Tooth disease, type 1, X-linkede(GJB1)

Charcot-Marie-Tooth disease, type 4D(NDRG1)

Chediak-Higashi syndrome(LYST)

Progressive familial intrahepatic cholestasis 1 (PFIC1) and benign familial intrahepatic cholestasis 1 (BRIC1)(ATP8B1)

Cholestasis, progressive familial intrahepatic 4(TJP2)

Lysosomal acid lipase deficiency(LIPA)

Choreoacanthocytosis(VPS13A)

Choroideremia, X-linkede(CHM)

Chronic granulomatous disease 4(CYBA)

Chronic granulomatous disease, X-linkede(CYBB)

Ciliopathies, RPGRIP1L-related(RPGRIP1L)

Citrin deficiency / Citrullinemia, type II(SLC25A13)

Cockayne syndrome, type A(ERCC8)

Cohen syndrome(VPS13B)

Combined malonic and methylmalonic aciduria(ACSF3)

Combined oxidative phosphorylation deficiency 3(TSFM)

Combined oxidative phosphorylation deficiency 1(GFM1)

Combined oxidative phosphorylation deficiency 6e(AIFM1)

Combined pituitary hormone deficiency, type 3(LHX3)

Congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency(CYP17A1)

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency(CYP21A2)

Congenital disorder of glycosylation, type Ib(MPI)

Congenital disorder of glycosylation, type Ic(ALG6)

Congenital ichthyosis, ABCA12-related(ABCA12)

Congenital insensitivity to pain with anhidrosis(NTRK1)

Lipoid congenital adrenal hyperplasia(STAR)

Congenital muscular dystrophy-dystroglycanopathy 1(POMT1)

Congenital myasthenic syndrome, CHAT-related(CHAT)

Congenital myasthenic syndrome, CHRNE-related(CHRNE)

Congenital myasthenic syndrome, DOK7-related(DOK7)

Congenital myasthenic syndrome, RAPSN-related(RAPSN)

Congenital neutropenia, HAX1-related(HAX1)

Severe congenital neutropenia 5(VPS45)

Corneal dystrophy and perceptive deafness syndrome(SLC4A11)

Corticosterone methyloxidase deficiency(CYP11B2)

L1 syndromee(L1CAM)

CRB1-related retinal dystrophies(CRB1)

Creatine Transporter Defect, SLC6A8-related, X-linked / Cerebral creatine deficiency syndromee(SLC6A8)

Cerebrooculofacioskeletal syndrome 1 / Cockayne syndrome, type B(ERCC6)

Usher syndrome, type 1J(CIB2)

Dent diseasee(CLCN5)

Desbuquois dysplasia, type I(CANT1)

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly(SLC1A4)

Dihydropyrimidine dehydrogenase deficiency(DPYD)

Duchenne/Becker muscular dystrophy, X-linkede(DMD)

Dyskeratosis congenita, X-linkede(DKC1)

Dystrophic epidermolysis bullosa, COL7A1-related(COL7A1)

Ehlers-Danlos syndrome, dermatosparaxis type(ADAMTS2)

Ellis-van Creveld syndrome(EVC2)

Ellis-van Creveld syndrome(EVC)

Emery-Dreifuss muscular dystrophy, X-linkede(EMD)

Enhanced S-cone syndrome(NR2E3)

Ethylmalonic encephalopathy(ETHE1)

Fabry disease, X-linkede(GLA)

Familial hemophagocytic lymphohistiocytosis 2(PRF1)

Familial hemophagocytic lymphohistiocytosis 4(STX11)

Familial hemophagocytic lymphohistiocytosis 5(STXBP2)

Familial hypercholesterolemia, LDLRAP1-related(LDLRAP1)

Familial hypercholesterolemia, LDLR-related(LDLR)

Fanconi anemia, Group Be(FANCB)

Fanconi anemia, Group D2(FANCD2)

Fanconi anemia, Group E(FANCE)

Fanconi anemia, Group F(FANCF)

Fanconi anemia, Group G(FANCG)

Fanconi anemia, Group I(FANCI)

Fanconi anemia, Group L(FANCL)

Farber lipogranulomatosis(ASAH1)

Fumarate hydratase deficiency(FH)

GABA-transaminase deficiency(ABAT)

Galactosemia, type II / Galactokinase deficiency(GALK1)

Galactosialidosis(CTSA)

Gitelman syndrome(SLC12A3)

Glucose-6-phosphate dehydrogenase deficiencye(G6PD)

Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIA(ETFA)

Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIB(ETFDH)

Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIC(ETFB)

Glycogen storage disease, type V(PYGM)

Glycogen storage disease, type VII(PFKM)

Guanidinoacetate methyltransferase deficiency(GAMT)

Factor IX deficiency / Hemophilia Be(F9)

MPV17-related mitochondrial DNA (mtDNA) maintenance defect(MPV17)

Hereditary hemochromatosis, type 2(HJV)

Hereditary hemochromatosis, type 3(TFR2)

TECPR2-related hereditary sensory and autonomic neuropathy with intellectual disability(TECPR2)

Hermansky-Pudlak syndrome, type 2(AP3B1)

Homocystinuria caused by methylenetetrahydrofolate reductase (MTHFR) deficiency(MTHFR)

Homocystinuria, type cblE(MTRR)

HPRT1-related disorderse(HPRT1)

Hermansky-Pudlak syndrome, type 4(HPS4)

Hyperphosphatemic familial tumoral calcinosis(GALNT3)

Hypohidrotic ectodermal dysplasia, X-linkede(EDA)

Immunodysregulation, polyendocrinopathy, and enteropathy, X-linkede(FOXP3)

PLA2G6-associated neurodegeneration(PLA2G6)

X-linked infantile spinal muscular atrophye(UBA1)

Johanson-Blizzard syndrome(UBR1)

Joubert syndrome 1(INPP5E)

Joubert syndrome 15(CEP41)

Joubert syndrome 21(CSPP1)

Joubert syndrome 25(CEP104)

Joubert syndrome 27(B9D1)

Joubert syndrome 3(AHI1)

Joubert syndrome 31(CEP120)

Joubert syndrome 34(B9D2)

Joubert syndrome 8(ARL13B)

Nephronophthisis 2(INVS)

NPHP1 nephronophthisis-related ciliopathies(NPHP1)

Juvenile retinoschisis, X-linkede(RS1)

Leber congenital amaurosis 5(LCA5)

Leber congenital amaurosis 2(RPE65)

Leber congenital amaurosis 13(RDH12)

Leukoencephalopathy with vanishing white matter(EIF2B5)

Limb-girdle muscular dystrophy, type 2B(DYSF)

Limb-girdle muscular dystrophy, type 5(SGCG)

Limb-girdle muscular dystrophy, type 6(SGCD)

Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy 5(FKRP)

Lipoprotein lipase deficiency(LPL)

X-linked developmental disorders, ARX-relatede(ARX)

Lowe syndrome, X-linkede(OCRL)

Malonyl-CoA decarboxylase deficiency(MLYCD)

Joubert syndrome 9(CC2D2A)

MEDNIK syndrome(AP1S1)

Megalencephalic leukoencephalopathy with subcortical cysts(MLC1)

Metachromatic leukodystrophy due to saposin B deficiency(PSAP)

Combined methylmalonic aciduria and homocystinuria, cblD type / Cobalamin D deficiency(MMADHC)

Micropthalmia / Anopthalmia(VSX2)

Mitochondrial complex I deficiency, nuclear type 16(NDUFAF5)

Mitochondrial complex I deficiency, nuclear type 9(NDUFS6)

Mitochondrial complex I deficiency, nuclear type 1(NDUFS4)

Mitochondrial complex I deficiency, nuclear type 17(NDUFAF6)

Mitochondrial complex IV deficiency, nuclear type 12(PET100)

Myopathy, lactic acidosis, and sideroblastic anemia(PUS1)

Mitochondrial trifunctional protein deficiency, HADHB-related(HADHB)

MKS1-related disorders(MKS1)

Molybdenum cofactor deficiency of complementation group A(MOCS1)

Mucolipidosis III gamma(GNPTG)

Mucopolysaccharidosis, type IVA / Morquio syndrome(GALNS)

Mucopolysaccharidosis, type VII / Sly syndrome(GUSB)

Mucopolysaccharidosis, type IX / Hyaluronidase deficiency(HYAL1)

Mulibrey nanism(TRIM37)

Multiple pterygium syndrome, lethal type(CHRNG)

Multiple sulfatase deficiency(SUMF1)

Muscular dystrophy-dystroglycanopathy 3(POMGNT1)

Muscular dystrophy-dystroglycanopathy 7(CRPPA)

Muscular dystrophy-dystroglycanopathy 6(LARGE1)

Muscular dystrophy-dystroglycanopathy 2(POMT2)

Congenital myasthenic syndrome, COLQ-related(COLQ)

Mitochondrial neurogastrointestinal encephalopathy(TYMP)

X-linked myotubular myopathye(MTM1)

Nephrogenic diabetes insipidus(AQP2)

Steroid-resistant nephrotic syndrome, type 3(PLCE1)

Neuronal ceroid lipofuscinosis, MFSD8-related(MFSD8)

Niemann-Pick disease, type C2(NPC2)

N-acetylglutamate synthase deficiency(NAGS)

Nonsyndromic hearing loss and deafness (DFNB) 3(MYO15A)

Odonto-onycho-dermal dysplasia / Schopf-Schulz-Passarge syndrome(WNT10A)

Omenn syndrome(DCLRE1C)

Severe combined immunodeficiency, RAG2-related(RAG2)

Ornithine aminotransferase deficiency(OAT)

Ornithine translocase deficiency(SLC25A15)

Joubert syndrome 17(CPLANE1)

Orofaciodigital syndrome XIV(C2CD3)

Osteopetrosis, infantile malignant, TCIRG1-related(TCIRG1)

Perlman syndrome(DIS3L2)

Zellweger spectrum disorders, PEX12-related(PEX12)

POLG-related disorders(POLG)

Pontocerebellar hypoplasia, type 1B(EXOSC3)

Pontocerebellar hypoplasia, type 2B(TSEN2)

Pontocerebellar hypoplasia, type 4 and 2A(TSEN54)

Pontocerebellar hypoplasia, type 6(RARS2)

Pontocerebellar hypoplasia, type 2E(VPS53)

Pontocerebellar hypoplasia, type 1A(VRK1)

Primary ciliary dyskinesia, DNAH5-related(DNAH5)

Primary ciliary dyskinesia, DNAI1-related(DNAI1)

Primary ciliary dyskinesia, DNAI2-related(DNAI2)

Primary congenital glaucoma(CYP1B1)

Primary hyperoxaluria, type II(GRHPR)

Primary hyperoxaluria, type III(HOGA1)

Progressive cerebello-cerebral atrophy(SEPSECS)

Progressive familial intrahepatic cholestastasis, type 2(ABCB11)

Prolidase deficiency(PEPD)

Pseudocholinesterase deficiency(BCHE)

Pseudoxanthoma elasticum(ABCC6)

Pycnodysostosis(CTSK)

Pyridoxine-dependent epilepsy(ALDH7A1)

Pyruvate dehydrogenase E1-alpha deficiencye(PDHA1)

Pyruvate dehydrogenase E1-beta deficiency(PDHB)

Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration(TANGO2)

Refsum disease(PHYH)

Renal tubular acidosis(SLC4A4)

Renal tubular acidosis and deafness, ATP6V1B1-related(ATP6V1B1)

NPHP3 nephronophthisis-related ciliopathies(NPHP3)

Retinitis pigmentosa 25(EYS)

Retinitis pigmentosa 26(CERKL)

Retinitis pigmentosa 28(FAM161A)

Rhizomelic chondrodysplasia punctata, type 2(GNPAT)

Rhizomelic chondrodysplasia punctata, type 3(AGPS)

Mitochondrial complex I deficiency, ACAD9-related(ACAD9)

Roberts-SC phocomelia syndrome(ESCO2)

Free sialic acid storage disorders(SLC17A5)

Schimke immunoosseous dysplasia(SMARCAL1)

NPHP4 nephronophthisis-related ciliopathies(NPHP4)

Severe combined immunodeficiency, X-linkede(IL2RG)

Shwachman-Diamond syndrome(SBDS)

Sialidosis(NEU1)

Spastic paraplegia, type 15(ZFYVE26)

WWOX deficiency(WWOX)

Steel syndrome(COL27A1)

Stuve-Wiedemann syndrome(LIFR)

Severe combined immunodeficiency, RAG1-related(RAG1)

Trichohepatoenteric syndrome 1(TTC37)

ERCC2-related conditions(ERCC2)

Triple A syndrome(AAAS)

Usher syndrome, type 2C(ADGRV1)

Vitamin D-dependent rickets, type 1A(CYP27B1)

Werner syndrome(WRN)

Wiskott-Aldrich syndrome, X-linkede(WAS)

Wolcott-Rallison syndrome(EIF2AK3)

Xeroderma pigmentosum, group A(XPA)

Xeroderma pigmentosum, group C(XPC)

X-linked chondrodysplasia punctata 1e(ARSL)

X-linked congenital adrenal hypoplasiae(NR0B1)

X-linked heterotaxy-1e(ZIC3)

X-Linked Hyper IgM Syndromee(CD40LG)

DCX-related disorderse(DCX)

Zellweger spectrum disorders, PEX26-related(PEX26)

Zellweger spectrum disorders, PEX10-related(PEX10)

c Panel components for males do not include specified X-linked diseases.

e Designated X-linked disease.

While we offer a comprehensive testing menu, 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.

*QHerit, QHerit Plus, QHerit Extended, QHerit 421 and QHerit 381 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 24 genes; QHerit Plus screens 85 genes, QHerit Extended screens 150 genes, QHerit 421 screens 421 genes and QHerit 381 screens 381 genes. For a full list of genes that each panel in the QHerit family screens, visit the Quest Diagnostics Test Directory. 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.

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CertifiedBoard-certified counselors are available to help with test selection and results interpretation 1.866.GENE.INFO (1.866.436.3463).

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