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Invitae Comprehensive Carrier Screen

Test description

The Invitae Comprehensive Carrier Screen includes 287 genes and is appropriate for couples of all ethnicities who want an expanded assessment of their risk of having an affected child.

This panel includes:

  • all disorders recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG)
  • an extended list of disorders recommended by national Jewish societies
  • disorders that may have a severe presentation
  • a selection of disorders found on the newborn screen
  • several X-linked disorders, including Fragile X syndrome

Please see the Disorders Tested table for a complete list of disorders tested.

You can customize this panel by clicking genes to remove them. Additional disorders are also available to add to this panel in the Alternative Tests to Consider section below.

Order test

Primary panel (287 genes)

CFTR FMR1 SMN1

ABCB11 ABCC8 ABCD1 ACAD9 ACADM ACADVL ACAT1 ACOX1 ACSF3 ADA ADAMTS2 ADGRG1 AGA AGL AGPS AGXT AIRE ALDH3A2 ALDOB ALG6 ALMS1 ALPL AMT AQP2 ARG1 ARSA ARSB ASL ASNS ASPA ASS1 ATM ATP6V1B1 ATP7A ATP7B ATRX BBS1 BBS10 BBS12 BBS2 BCKDHA BCKDHB BCS1L BLM BSND CAPN3 CBS CDH23 CEP290 CERKL CHM CHRNE CIITA CLN3 CLN5 CLN6 CLN8 CLRN1 CNGB3 COL27A1 COL4A3 COL4A4 COL4A5 COL7A1 CPS1 CPT1A CPT2 CRB1 CTNS CTSK CYBA CYBB CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP27A1 DBT DCLRE1C DHCR7 DHDDS DLD DMD DNAH5 DNAI1 DNAI2 DYSF EDA EIF2B5 EMD ERCC6 ERCC8 ESCO2 ETFA ETFDH ETHE1 EVC EVC2 EYS F9 FAH FAM161A FANCA FANCC FANCG FH FKRP FKTN G6PC GAA GALC GALK1 GALT GAMT GBA GBE1 GCDH GFM1 GJB1 GJB2 GLA GLB1 GLDC GLE1 GNE GNPTAB GNPTG GNS GRHPR HADHA HAX1 HBA1, HBA2 HBB HEXA HEXB HGSNAT HLCS HMGCL HOGA1 HPS1 HPS3 HSD17B4 HSD3B2 HYAL1 HYLS1 IDS IDUA IKBKAP IL2RG IVD KCNJ11 LAMA2 LAMA3 LAMB3 LAMC2 LCA5 LDLR LDLRAP1 LHX3 LIFR LIPA LOXHD1 LPL LRPPRC MAN2B1 MCOLN1 MED17 MESP2 MFSD8 MKS1 MLC1 MMAA MMAB MMACHC MMADHC MPI MPL MPV17 MTHFR MTM1 MTRR MTTP MUT MYO7A NAGLU NAGS NBN NDRG1 NDUFAF5 NDUFS6 NEB NPC1 NPC2 NPHS1 NPHS2 NR2E3 NTRK1 OAT OPA3 OTC PAH PC PCCA PCCB PCDH15 PDHA1 PDHB PEX1 PEX10 PEX12 PEX2 PEX6 PEX7 PFKM PHGDH PKHD1 PMM2 POMGNT1 PPT1 PROP1 PRPS1 PSAP PTS PUS1 PYGM RAB23 RAG2 RAPSN RARS2 RDH12 RMRP RPE65 RPGRIP1L RS1 RTEL1 SACS SAMHD1 SEPSECS SGCA SGCB SGCG SGSH SLC12A3 SLC12A6 SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC26A2 SLC26A4 SLC35A3 SLC37A4 SLC39A4 SLC4A11 SLC6A8 SLC7A7 SMARCAL1 SMPD1 STAR SUMF1 TAT TCIRG1 TECPR2 TFR2 TGM1 TH TMEM216 TPP1 TRMU TSFM TTPA TYMP USH1C USH2A VPS13A VPS13B VPS45 VRK1 VSX2 WNT10A XPA XPC ZFYVE26

Alternative tests to consider

Additional genes can be included with any carrier screen. These add-on genes are associated with disorders that have variable presentation and therefore may not be appropriate for general population screening, however may be appropriate for certain patients. First, add a carrier screen to your cart, and then click below to add additional genes.

Other carrier screening options:

DisorderGene
11-beta-hydroxylase-deficient congenital adrenal hyperplasia CYP11B1
17-alpha-hydroxylase-deficient congenital adrenal hyperplasia CYP17A1
3-beta-hydroxysteroid dehydrogenase type II deficiency (Congenital adrenal hyperplasia) HSD3B2
3-hydroxy-3-methylglutarayl-CoA (HMG-CoA) lyase deficiency HMGCL
3-methylglutaconic aciduria type III (Costeff optic atrophy) OPA3
Abetalipoproteinemia MTTP
ACAD9 deficiency ACAD9
Achromatopsia (CNGB3-related) CNGB3
Acrodermatitis enteropathica SLC39A4
Adenosine deaminase deficiency ADA
Aicardi-Goutieres syndrome (SAMHD1-related) SAMHD1
Alpha-mannosidosis MAN2B1
Alpha-thalassemia HBA1/HBA2
Alpha-thalassemia X-linked intellectual disability syndrome ATRX
Alport Syndrome (COL4A3-related) COL4A3
Alport Syndrome (COL4A4-related) COL4A4
Alport Syndrome, X-linked (COL4A5-related) COL4A5
Alström syndrome ALMS1
Andermann syndrome SLC12A6
Arginase deficiency ARG1
Argininosuccinic aciduria ASL
Aromatase deficiency CYP19A1
Asparagine synthetase deficiency ASNS
Aspartylglucosaminuria AGA
Ataxia with vitamin E deficiency TTPA
Ataxia-telangiectasia ATM
Autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia AIRE
Autosomal recessive deafness 77 (DFNB77) LOXHD1
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) SACS
Bardet-Biedl syndrome (BBS1-related) BBS1
Bardet-Biedl syndrome (BBS10-related) BBS10
Bardet-Biedl syndrome (BBS12-related) BBS12
Bardet-Biedl syndrome (BBS2-related) BBS2
Bartter syndrome type IV BSND
Beta-ketothiolase deficiency ACAT1
Bloom syndrome BLM
Canavan disease ASPA
Carbamoylphosphate synthetase I deficiency CPS1
Carnitine palmitoyltransferase I deficiency CPT1A
Carnitine palmitoyltransferase II deficiency CPT2
Carpenter Syndrome RAB23
Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders RMRP
Cerebrotendinous xanthomatosis CYP27A1
Charcot-Marie-Tooth disease (NDRG1-related) NDRG1
Charcot-Marie-Tooth disease, X-linked (GJB1-related) GJB1
Chorea-acanthocytosis VPS13A
Choroideremia CHM
Chronic granulomatous disease (CYBA-related) CYBA
Chronic granulomatous disease (CYBB-related) CYBB
Citrin deficiency SLC25A13
Citrullinemia type 1 ASS1
Cockayne syndrome type A ERCC8
Cockayne syndrome type B ERCC6
Cohen syndrome VPS13B
Combined malonic and methylmalonic aciduria (ACSF3-related) ACSF3
Combined oxidative phosphorylation deficiency (GFM1-related) GFM1
Combined oxidative phosphorylation deficiency (TSFM-related) TSFM
Combined pituitary hormone deficiency (LHX3-related) LHX3
Combined pituitary hormone deficiency (PROP1-related) PROP1
Combined SAP Deficiency PSAP
Congenital amegakaryocytic thrombocytopenia MPL
Congenital disorder of glycosylation (ALG6-related) ALG6
Congenital disorder of glycosylation (MPI-related) MPI
Congenital disorders of glycosylation (PMM2-related) PMM2
Congenital ichthyosis (TGM1-related) TGM1
Congenital insensitivity to pain with anhidrosis NTRK1
Congenital myasthenic syndrome (CHRNE-related) CHRNE
Congenital myasthenic syndrome (RAPSN-related) RAPSN
Congenital neutropenia (HAX1-related) HAX1
Corneal dystrophy and perceptive deafness SLC4A11
Corticosterone methyloxidase deficiency CYP11B2
Cystic fibrosis CFTR
Cystinosis CTNS
D-bifunctional protein deficiency HSD17B4
DHDDS-related disorders (including Congenital disorder of glycoslylation/ Retinitis pigmentosa 59) DHDDS
Dihydrolipoamide dehydrogenase deficiency (DLD) DLD
DMD-related dystrophinopathy (Including Duchenne/Becker muscular dystrophy and Dilated cardiomyopathy) DMD
Dysferlinopathy (including Limb-girdle muscular dystrophy type 2B) DYSF
Dystrophic epidermolysis bullosa (COL7A1-related) COL7A1
Ehlers-Danlos syndrome type VIIC ADAMTS2
Ellis-van Creveld syndrome (EVC-related) EVC
Ellis-van Creveld syndrome (EVC2-related) EVC2
Emery-Dreifuss muscular dystrophy (EMD-related) EMD
Enhanced S-cone syndrome/ Retinitis pigmentosa 37 NR2E3
Ethylmalonic encephalopathy ETHE1
Fabry disease GLA
Factor IX deficiency (Hemophilia B) F9
Familial dysautonomia IKBKAP
Familial hypercholesterolemia (LDLR-related) LDLR
Familial hypercholesterolemia (LDLRAP1-related) LDLRAP1
Familial hyperinsulinism (ABCC8-related) ABCC8
Familial hyperinsulinism (KCNJ11-related) KCNJ11
Fanconi anemia type A FANCA
Fanconi anemia type C FANCC
Fanconi anemia type G FANCG
Fragile X syndrome FMR1
Fumarate hydratase deficiency FH
Galactokinase deficiency galactosemia GALK1
Galactosemia GALT
Gaucher disease GBA
Gitelman syndrome SLC12A3
GJB2-related DFNB1 nonsyndromic hearing loss and deafness GJB2
Glutaric acidemia type I GCDH
Glutaric acidemia type II (ETFA-related) ETFA
Glutaric acidemia type II (ETFDH-related) ETFDH
Glycine encephalopathy (AMT-related) AMT
Glycine encephalopathy (GLDC-related) GLDC
Glycogen storage disease type Ia G6PC
Glycogen storage disease type Ib SLC37A4
Glycogen storage disease type II (Pompe disease) GAA
Glycogen storage disease type III AGL
Glycogen storage disease type IV/ Adult polyglucosan body disease GBE1
Glycogen storage disease type V PYGM
Glycogen storage disease type VII PFKM
GRACILE syndrome/ BCS1L-related disorders (including Mitochondrial complex III deficiency, Bjornstad syndrome, Leigh syndrome) BCS1L
Guanidinoacetate methyltransferase deficiency GAMT
HBB-related hemoglobinopathies (including Beta-thalassemia and Sickle cell disease) HBB
Hereditary fructose intolerance ALDOB
Hereditary hemochromatosis (TFR2-related) TFR2
Hermansky-Pudlak syndrome (HPS1-related) HPS1
Hermansky-Pudlak syndrome (HPS3-related) HPS3
Holocarboxylase synthetase deficiency HLCS
Homocystinuria (CBS-related) CBS
Homocystinuria due to MTHFR deficiency MTHFR
Homocystinuria, cobalamin E type MTRR
Hydrolethalus syndrome type 1 HYLS1
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome SLC25A15
Hypohidrotic ectodermal dysplasia (EDA-related) EDA
Hypophosphatasia ALPL
Inclusion body myopathy 2 GNE
Isovaleric acidemia IVD
Joubert syndrome 2/ TMEM216-related disorders TMEM216
Junctional epidermolysis bullosa (LAMA3-related) LAMA3
Junctional epidermolysis bullosa (LAMB3-related) LAMB3
Junctional epidermolysis bullosa (LAMC2-related) LAMC2
Krabbe disease GALC
LAMA2-related muscular dystrophy LAMA2
Leber congenital amaurosis 10/ CEP290-related disorders CEP290
Leber congenital amaurosis 13 RDH12
Leber congenital amaurosis 2 RPE65
Leber congenital amaurosis 5 LCA5
Leber congenital amaurosis 8/ CRB1-related disorders CRB1
Leigh syndrome, French Canadian type LRPPRC
Lethal congenital contracture syndrome 1 / Lethal arthrogryposis with anterior horn cell disease GLE1
Leukoencephalopathy with vanishing white matter (EIF2B5-related) EIF2B5
Limb-girdle muscular dystrophy type 2A/Calpainopathy CAPN3
Limb-girdle muscular dystrophy type 2C SGCG
Limb-girdle muscular dystrophy type 2D SGCA
Limb-girdle muscular dystrophy type 2E SGCB
Lipoid congenital adrenal hyperplasia STAR
Lipoprotein lipase deficiency LPL
Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency HADHA
Lysinuric protein intolerance SLC7A7
Lysosomal acid lipase deficiency (includes Wolman disease and Cholesterol ester storage disease) LIPA
Major histocompatibility complex class II deficiency CIITA
Maple syrup urine disease (MSUD) type 1A BCKDHA
Maple syrup urine disease (MSUD) type 1B BCKDHB
Maple syrup urine disease (MSUD) type 2 DBT
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency ACADM
Megalencephalic leukoencephalopathy with subcortical cysts type 1 MLC1
Menkes disease/ ATP7A-related disorders (including Occipital horn syndrome and Distal hereditary motor neuropathy) ATP7A
Metachromatic leukodystrophy ARSA
Methylmalonic acidemia (MMAA-related) MMAA
Methylmalonic acidemia (MMAB-related) MMAB
Methylmalonic acidemia (MUT-related) MUT
Methylmalonic acidemia with homocystinuria, cobalamin C type MMACHC
Methylmalonic acidemia with homocystinuria, cobalamin D type MMADHC
Microphthalmia / clinical anophthalmia VSX2
Mitochondrial complex I deficiency/ Leigh syndrome (NDUFAF5-related) NDUFAF5
Mitochondrial complex I deficiency/ Leigh syndrome (NDUFS6- related) NDUFS6
Mitochondrial DNA depletion syndrome MPV17
Mitochondrial myopathy and sideroblastic anemia 1 PUS1
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease TYMP
MKS1-related disorders MKS1
Mucolipidosis type II/III (GNPTAB-related) GNPTAB
Mucolipidosis type III (GNPTG-related) GNPTG
Mucolipidosis type IV MCOLN1
Mucopolysaccharidosis type I (includes Hurler, Hurler-Scheie, and Scheie syndromes) IDUA
Mucopolysaccharidosis type II (Hunter syndrome) IDS
Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) SGSH
Mucopolysaccharidosis type IIIB NAGLU
Mucopolysaccharidosis type IIIC (Sanfilippo syndrome)/ Retinitis pigmentosa 73 HGSNAT
Mucopolysaccharidosis type IIID (Sanfilippo syndrome) GNS
Mucopolysaccharidosis type IVB (Morquio B syndrome)/ GM1 gangliosidosis GLB1
Mucopolysaccharidosis type IX HYAL1
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) ARSB
Multiple sulfatase deficiency SUMF1
N-Acetylglutamate synthase deficiency NAGS
Nemaline myopathy 2 NEB
Nephrogenic diabetes insipidus (AQP2-related) AQP2
Nephrotic syndrome/ Congenital Finnish nephrosis (NPHS1-related) NPHS1
Nephrotic syndrome/Steroid-resistant nephrotic syndrome (NPHS2-related) NPHS2
Neuronal ceroid lipofuscinosis (TPP1-related) TPP1
Neuronal ceroid-lipofuscinosis (CLN3-related) CLN3
Neuronal ceroid-lipofuscinosis (CLN5-related) CLN5
Neuronal ceroid-lipofuscinosis (CLN6-related) CLN6
Neuronal ceroid-lipofuscinosis (MFSD8-related) MFSD8
Neuronal ceroid-lipofuscinosis (PPT1-related) PPT1
Neuronal ceroid-lipofuscinosis/ Northern epilepsy (CLN8-related) CLN8
Niemann-Pick disease type A/B SMPD1
Niemann-Pick disease type C (NPC1-related) NPC1
Niemann-Pick disease type C (NPC2-related) NPC2
Nijmegen breakage syndrome NBN
Ornithine aminotransferase deficiency OAT
Ornithine transcarbamylase (OTC) deficiency OTC
Osteopetrosis (TCIRG1-related) TCIRG1
Pendred syndrome SLC26A4
Peroxisomal acyl-CoA oxidase deficiency ACOX1
Phenylalanine hydroxylase deficiency (including Phenylketonuria (PKU)) PAH
Phosphoglycerate dehydrogenase deficiency/ Neu-Laxova syndrome PHGDH
Polycystic kidney disease (PKHD1-related) PKHD1
Polymicrogyria (ADGRG1-related) ADGRG1
POMGNT1-related disorders (including Muscle eye brain disease) POMGNT1
Pontocerebellar hypoplasia (RARS2-related) RARS2
Pontocerebellar hypoplasia (SEPSECS-related) SEPSECS
Pontocerebellar hypoplasia (VRK1-related) VRK1
Postnatal progressive microcephaly with seizures and brain atrophy/ Infantile cerebral and cerebellar atrophy (MED17-related) MED17
Primary carnitine deficiency SLC22A5
Primary Ciliary Dyskinesia (DNAH5-related) DNAH5
Primary Ciliary Dyskinesia (DNAI1-related) DNAI1
Primary Ciliary Dyskinesia (DNAI2-related) DNAI2
Primary hyperoxaluria type 1 AGXT
Primary hyperoxaluria type 2 GRHPR
Primary hyperoxaluria type 3 HOGA1
Progressive familial intrahepatic cholestasis type 2 ABCB11
Propionic acidemia (PCCA-related) PCCA
Propionic acidemia (PCCB-related) PCCB
PRPS1-related disorders (including Charcot-Marie-Tooth disease type 5 and Arts syndrome) PRPS1
Pycnodysostosis CTSK
Pyruvate carboxylase deficiency PC
Pyruvate dehydrogenase deficiency (PDHA1-related) PDHA1
Pyruvate dehydrogenase deficiency (PDHB-related) PDHB
Renal tubular acidosis with deafness (ATP6V1B1-related) ATP6V1B1
Retinitis pigmentosa 25 EYS
Retinitis pigmentosa 26 CERKL
Retinitis Pigmentosa 28 FAM161A
Rhizomelic chondrodysplasia punctata type 1/ Refsum disease (PEX7-related) PEX7
Rhizomelic chondrodysplasia punctata type 3 AGPS
Roberts syndrome ESCO2
RPGRIP1L-related disorders (including Joubert syndrome 7, COACH syndrome and Meckel syndrome 5) RPGRIP1L
RTEL-1-related disorders (including Dyskeratosis congenita) RTEL1
Sandhoff disease HEXB
Schimke immuno-osseous dysplasia SMARCAL1
Severe combined immune deficiency (DCLRE1C-related) DCLRE1C
Severe combined immunodeficiency/ Omenn syndrome (RAG2-related) RAG2
Severe congenital neutropenia (VPS45-related) VPS45
Sialic acid storage disorders SLC17A5
Sjögren-Larsson syndrome ALDH3A2
SLC26A2-related disorders (including Diatrophic dysplasia, Atelosteogenesis type 2, Achondrogenesis type 1B/ Multiple metaphyseal dysplasia) SLC26A2
SLC35A3-related disorder SLC35A3
Smith-Lemli-Opitz syndrome DHCR7
Spastic paraplegia type 15 ZFYVE26
Spastic paraplegia type 49 TECPR2
Spinal muscular atrophy SMN1
Spondylothoracic dysostosis MESP2
Steel Syndrome COL27A1
Stüve-Wiedemann syndrome LIFR
Tay-Sachs disease/ Hexosaminidase A deficiency HEXA
Tetrahydrobiopterin deficiency (PTS-related) PTS
Transient infantile liver failure (TRMU-related) TRMU
Tyrosine hydroxylase deficiency TH
Tyrosinemia type I FAH
Tyrosinemia type II TAT
Usher syndrome type IB/ MYO7A-related disorders MYO7A
Usher syndrome type IC/ USH1C-related disorders USH1C
Usher syndrome type ID CDH23
Usher syndrome type IF/ PCDH15-related disorders PCDH15
Usher syndrome type IIA/ USH2A-related disorders USH2A
Usher syndrome type IIIA CLRN1
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency ACADVL
Walker-Warburg syndrome/ FKRP-related disorders FKRP
Walker-Warburg syndrome/ FKTN-related disorders FKTN
Wilson disease ATP7B
WNT10A-related disorders (including Odonto-onycho-dermal dysplasia and Schopf-Schulz-Passarge syndrome) WNT10A
X-linked adrenoleukodystrophy ABCD1
X-linked creatine transporter deficiency SLC6A8
X-linked juvenile retinoschisis RS1
X-linked myotubular myopathy MTM1
X-linked severe combined immunodeficiency (X-SCID) IL2RG
Xeroderma pigmentosum complemetation group A XPA
Xeroderma pigmentosum complemetation group C XPC
Zellweger spectrum disorder (PEX1-related) PEX1
Zellweger spectrum disorder (PEX10-related) PEX10
Zellweger spectrum disorder (PEX12-related) PEX12
Zellweger spectrum disorder (PEX2-related) PEX2
Zellweger spectrum disorder (PEX6-related) PEX6

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ABCB11 NM_003742.2
ABCC8 NM_000352.4
ABCD1 NM_000033.3
ACAD9 NM_014049.4
ACADM NM_000016.5
ACADVL NM_000018.3
ACAT1 NM_000019.3
ACOX1 NM_004035.6
ACSF3 NM_174917.4
ADA NM_000022.2
ADAMTS2 NM_014244.4
ADGRG1 NM_005682.6
AGA NM_000027.3
AGL NM_000642.2
AGPS NM_003659.3
AGXT NM_000030.2
AIRE NM_000383.3
ALDH3A2 NM_000382.2
ALDOB NM_000035.3
ALG6* NM_013339.3
ALMS1 NM_015120.4
ALPL NM_000478.5
AMT NM_000481.3
AQP2 NM_000486.5
ARG1 NM_000045.3
ARSA NM_000487.5
ARSB NM_000046.3
ASL NM_000048.3
ASNS NM_133436.3
ASPA NM_000049.2
ASS1 NM_000050.4
ATM NM_000051.3
ATP6V1B1 NM_001692.3
ATP7A NM_000052.6
ATP7B NM_000053.3
ATRX NM_000489.4
BBS1 NM_024649.4
BBS10 NM_024685.3
BBS12 NM_152618.2
BBS2 NM_031885.3
BCKDHA NM_000709.3
BCKDHB NM_183050.2
BCS1L NM_004328.4
BLM NM_000057.3
BSND NM_057176.2
CAPN3 NM_000070.2
CBS NM_000071.2
CDH23 NM_022124.5
CEP290* NM_025114.3
CERKL NM_001030311.2
CFTR* NM_000492.3
CHM NM_000390.2
CHRNE* NM_000080.3
CIITA NM_000246.3
CLN3* NM_001042432.1
CLN5 NM_006493.2
CLN6 NM_017882.2
CLN8 NM_018941.3
CLRN1 NM_174878.2, NM_052995.2
CNGB3 NM_019098.4
COL27A1* NM_032888.3
COL4A3 NM_000091.4
COL4A4 NM_000092.4
COL4A5* NM_000495.4
COL7A1 NM_000094.3
CPS1 NM_001875.4
CPT1A NM_001876.3
CPT2 NM_000098.2
CRB1 NM_201253.2
CTNS NM_004937.2
CTSK NM_000396.3
CYBA NM_000101.3
CYBB NM_000397.3
CYP11B1 NM_000497.3
CYP11B2 NM_000498.3
CYP17A1 NM_000102.3
CYP19A1 NM_031226.2
CYP27A1 NM_000784.3
DBT NM_001918.3
DCLRE1C NM_001033855.2
DHCR7 NM_001360.2
DHDDS NM_024887.3
DLD NM_000108.4
DMD* NM_004006.2
DNAH5 NM_001369.2
DNAI1 NM_012144.3
DNAI2 NM_023036.4
DYSF NM_003494.3
EDA NM_001399.4
EIF2B5 NM_003907.2
EMD NM_000117.2
ERCC6 NM_000124.3
ERCC8 NM_000082.3
ESCO2 NM_001017420.2
ETFA NM_000126.3
ETFDH NM_004453.3
ETHE1 NM_014297.3
EVC NM_153717.2
EVC2 NM_147127.4
EYS NM_001142800.1
F9 NM_000133.3
FAH NM_000137.2
FAM161A NM_001201543.1
FANCA NM_000135.2
FANCC NM_000136.2
FANCG NM_004629.1
FH NM_000143.3
FKRP NM_024301.4
FKTN* NM_001079802.1
FMR1* NM_002024.5
G6PC NM_000151.3
GAA* NM_000152.3
GALC* NM_000153.3
GALK1 NM_000154.1
GALT* NM_000155.3
GAMT NM_000156.5
GBA* NM_001005741.2
GBE1 NM_000158.3
GCDH NM_000159.3
GFM1 NM_024996.5
GJB1 NM_000166.5
GJB2 NM_004004.5
GLA* NM_000169.2
GLB1 NM_000404.2
GLDC NM_000170.2
GLE1 NM_001003722.1
GNE NM_001128227.2
GNPTAB NM_024312.4
GNPTG NM_032520.4
GNS NM_002076.3
GRHPR NM_012203.1
HADHA NM_000182.4
HAX1 NM_006118.3
HBA1, HBA2* HBA1: NM_000558.4, HBA2: NM_000517.4
HBB NM_000518.4
HEXA NM_000520.4
HEXB NM_000521.3
HGSNAT NM_152419.2
HLCS NM_000411.6
HMGCL NM_000191.2
HOGA1 NM_138413.3
HPS1 NM_000195.4
HPS3 NM_032383.4
HSD17B4 NM_000414.3
HSD3B2 NM_000198.3
HYAL1 NM_153281.1
HYLS1 NM_145014.2
IDS* NM_000202.6
IDUA NM_000203.4
IKBKAP NM_003640.3
IL2RG NM_000206.2
IVD NM_002225.3
KCNJ11 NM_000525.3
LAMA2 NM_000426.3
LAMA3 NM_000227.4, NM_198129.2
LAMB3 NM_000228.2
LAMC2 NM_005562.2
LCA5 NM_181714.3
LDLR NM_000527.4
LDLRAP1 NM_015627.2
LHX3 NM_014564.4
LIFR NM_002310.5
LIPA NM_000235.3
LOXHD1 NM_144612.6, NM_001145472.2
LPL NM_000237.2
LRPPRC NM_133259.3
MAN2B1 NM_000528.3
MCOLN1 NM_020533.2
MED17 NM_004268.4
MESP2 NM_001039958.1
MFSD8 NM_152778.2
MKS1* NM_017777.3
MLC1 NM_015166.3
MMAA NM_172250.2
MMAB NM_052845.3
MMACHC NM_015506.2
MMADHC* NM_015702.2
MPI NM_002435.2
MPL NM_005373.2
MPV17 NM_002437.4
MTHFR* NM_005957.4
MTM1 NM_000252.2
MTRR* NM_002454.2
MTTP NM_000253.3
MUT NM_000255.3
MYO7A NM_000260.3, NM_001127179.2
NAGLU NM_000263.3
NAGS NM_153006.2
NBN* NM_002485.4
NDRG1 NM_006096.3
NDUFAF5 NM_024120.4
NDUFS6 NM_004553.4
NEB* NM_001271208.1
NPC1 NM_000271.4
NPC2 NM_006432.3
NPHS1 NM_004646.3
NPHS2 NM_014625.3
NR2E3 NM_014249.3
NTRK1 NM_001012331.1, NM_002529.3
OAT NM_000274.3
OPA3 NM_025136.3, NM_001017989.2
OTC* NM_000531.5
PAH NM_000277.1
PC* NM_000920.3
PCCA NM_000282.3
PCCB NM_000532.4
PCDH15 NM_033056.3, NM_001142763.1, NM_001142769.1
PDHA1 NM_000284.3
PDHB NM_000925.3
PEX1 NM_000466.2
PEX10 NM_153818.1
PEX12 NM_000286.2
PEX2 NM_000318.2
PEX6 NM_000287.3
PEX7 NM_000288.3
PFKM NM_000289.5
PHGDH NM_006623.3
PKHD1 NM_138694.3
PMM2 NM_000303.2
POMGNT1 NM_017739.3
PPT1* NM_000310.3
PROP1 NM_006261.4
PRPS1 NM_002764.3
PSAP NM_002778.3
PTS NM_000317.2
PUS1 NM_025215.5
PYGM NM_005609.3
RAB23 NM_183227.2
RAG2 NM_000536.3
RAPSN* NM_005055.4
RARS2 NM_020320.3
RDH12 NM_152443.2
RMRP NR_003051.3
RPE65 NM_000329.2
RPGRIP1L* NM_015272.2
RS1 NM_000330.3
RTEL1 NM_032957.4, NM_001283009.1
SACS NM_014363.5
SAMHD1 NM_015474.3
SEPSECS NM_016955.3
SGCA NM_000023.2
SGCB NM_000232.4
SGCG NM_000231.2
SGSH NM_000199.3
SLC12A3 NM_000339.2
SLC12A6 NM_133647.1
SLC17A5 NM_012434.4
SLC22A5 NM_003060.3
SLC25A13 NM_014251.2
SLC25A15 NM_014252.3
SLC26A2* NM_000112.3
SLC26A4 NM_000441.1
SLC35A3 NM_012243.2
SLC37A4 NM_001164277.1
SLC39A4 NM_130849.3
SLC4A11 NM_032034.3
SLC6A8 NM_005629.3
SLC7A7 NM_001126106.2
SMARCAL1 NM_014140.3
SMN1* NM_000344.3
SMPD1 NM_000543.4
STAR NM_000349.2
SUMF1 NM_182760.3
TAT NM_000353.2
TCIRG1 NM_006019.3
TECPR2 NM_014844.3
TFR2 NM_003227.3
TGM1 NM_000359.2
TH NM_199292.2
TMEM216 NM_001173990.2
TPP1 NM_000391.3
TRMU NM_018006.4
TSFM* NM_001172696.1
TTPA NM_000370.3
TYMP NM_001953.4
USH1C* NM_005709.3, NM_153676.3
USH2A NM_206933.2
VPS13A* NM_033305.2
VPS13B NM_017890.4
VPS45 NM_007259.4
VRK1 NM_003384.2
VSX2 NM_182894.2
WNT10A NM_025216.2
XPA NM_000380.3
XPC NM_004628.4
ZFYVE26 NM_015346.3

ALG6: Deletion/duplication analysis is not offered for exons 11-12
CEP290: Analysis includes the intronic variant NM_025114.3:c.2991+1655A>G.
CFTR: Analysis includes the intronic variants: NM_000492.3:c.3718-2477C>T (also known as 3849+10kbC>T), c.1210-34TG[12]T[5] (also known as T5TG12), c.1210-34TG[11]T[5] (also known as T5TG11), and c.1679+1634A>G.
CHRNE: Analysis includes the intronic variants NM_000080.3:c.-96C>T, NM_000080.3:c.-95G>A, and NM_000080.3:c.-94G>A.
CLN3: Analysis includes the intronic variant NM_001042432.1; c.461-13G>C.
COL27A1: Deletion/duplication analysis is not offered for exons 46-47
COL4A5: Deletion/duplication analysis is not offered for exons 11-12
DMD: Analysis guarantees del/dup detection at single-exon resolution.
FKTN: Analysis includes the intronic variant NM_001079802.1:c.647+2084G>T (also known as NM_001079802.1:c.648-1243G>T) and the ~3 kb retrotransposon insertion in the 3' UTR at position NM_001079802​.1:c.*4392_*4393.
FMR1: This assay is designed to detect and categorize CGG repeats found at the promoter region of the FMR1 locus for all alleles reported. This assay is not designed to analyze AGG interruptions. If two equal alleles are reported, this may indicate that both alleles are the same size, or that one allele is the reported size and the other allele is too small to be detected by this analysis.
GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.
GALC: Analysis includes the large (30 kb) deletion for Krabbe Disease.
GALT: Analysis includes the 5 kb deletion NM_000155.3:c.[-1039_753del; 820+50_*789delinsGAATAGACCCCA] as well as the Duarte variant NM_000155.3: c.-119_-116delGTCA.
GBA: c.84dupG (p.Leu29Alafs*18), c.115+1G>A (Splice donor), c.222_224delTAC (p.Thr75del), c.475C>T (p.Arg159Trp), c.595_596delCT (p.Leu199Aspfs*62), c.680A>G (p.Asn227Ser), c.721G>A (p.Gly241Arg), c.754T>A (p.Phe252Ile), c.1226A>G (p.Asn409Ser), c.1246G>A (p.Gly416Ser), c.1263_1317del (p.Leu422Profs*4), c.1297G>T (p.Val433Leu), c.1342G>C (p.Asp448His), c.1343A>T (p.Asp448Val), c.1448T>C (p.Leu483Pro), c.1504C>T (p.Arg502Cys), c.1505G>A (p.Arg502His), c.1603C>T (p.Arg535Cys), c.1604G>A (p.Arg535His) variants only.
GLA: Analysis includes the intronic variant NM_000169.2:c.IVS4+919G>A.
HBA1/2: This assay is designed to detect deletions and duplications of HBA1 and/or HBA2, resulting from the -alpha20.5, --MED, --SEA, --FIL/--THAI, -alpha3.7, -alpha4.2, anti3.7 and anti4.2. Sensitivity to detect other copy number variants may be reduced. Detection of overlapping deletion and duplication events will be limited to combinations of events with significantly differing boundaries. In addition, this assay detects deletion of the enhancer element HS40 and the sequence variant, Constant Spring (NM_000517.4:c.427T>C).
IDS: Detection of complex rearrangements not offered (PMID: 7633410, 20301451)
MKS1: Analysis includes the intronic variant NM_017777.3: c.1408-35_1408-7del.
MMADHC: Deletion/duplication analysis is not offered for exons 5-6
MTHFR: The NM_005957.4:c.665C>T (p.Ala222Val) (aka 677C>T) and c.1286A>C (p.Glu429Ala) (aka 1298A>C) variants are not reported in our primary report as they are classified as benign.
MTRR: Analysis includes the intronic variant NM_002454.2:c.903+469T>C.
NBN: Deletion/duplication analysis is not offered for exons 15-16
NEB: This assay detects the exon 55 deletion found in Ashkenazi Jewish individuals in association with nemaline myopathy. Exons 82-105 contain a large triplicated region. Deletion/duplication analysis excludes this region. Sequence changes in this region can be detected, but this assay cannot determine which of the three repeat units is affected (and zygosity is often ambiguous). All variants in this region are reported relative to the exon 82-89 repeat.
OTC: Analysis includes the intronic variant NM_000531.5:c.540+265G>A.
PC: Analysis includes the intronic variant NM_000920.3:c.1369-29A>G.
PPT1: Analysis includes the large, mostly intronic deletion NM_000310.3:c.124+1215_235-102del3627 as well as the intronic variant NM_000310.3:c.125-15T>G.
RAPSN: Analysis includes the promoter variants NM_005055.3:c.-210A>G and NM_005055.3:c.-199C>G.
RPGRIP1L: Sequence analysis not offered for exon 23
SLC26A2: Analysis includes the intronic variant NM_000112.3:c.-26+2T>C.
SMN1: The SMN1 gene is identical to the SMN2 gene with the exception of exon 8 (typically referred to as exon 7). This assay unambiguously detects SMN1 exon 8 copy number. The presence of the g.27134T>G variant (also known as c.*3+80T>G or SNP analysis for enhanced SMA testing) is reported if SMN1 copy number = 2. Sequence analysis of other point mutations is not included.
TSFM: Sequence analysis not offered for exon 5
USH1C: Deletion/duplication analysis is not offered for exons 5-6
VPS13A: Deletion/duplication analysis is not offered for exons 2-3, 27-28