Our Tests

List of Diseases

Single Gene Disorders tested by PGT-M

Gene Name

Achondroplasia

FGFR3

Achromatopsia

CNGB3

Acromesomelic Dysplasia, Maroteaux Type

NPR2

Adenosine Deaminase Deficiency

ADA

Adrenoleukodystrophy

ABCD1

Agammaglobulinemia

BTK

Aicardi-Goutieres Syndrome

TREX1; RNASEH2B; SAMHD1

Allan-Herndon-Dudley Syndrome

SLC16A2

Alopecia

HR

Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis

POLG

Alpha 1 Antitrypsin Deficiency

SERPINA1

Alpha Thalassemia

HBA1; HBA2

Alport Syndrome

AMMECR1; COL4A5

Alzheimer Disease

PSEN1; PSEN2

Amyotrophic Lateral Sclerosis

SOD1; SETX

Androgen Receptor

AR

Angelman Syndrome

UBE3A

Aniridia

PAX6

Argininosuccinic Aciduria

ASL

Arthrogryposis - Multiple Types

TNNT3; FBN2; VPS33B

Ataxia-Telangiectasia

ATM

Axenfeld-Rieger Syndrome

PITX2

Bardet-Biedl Syndrome; BBS

BBS10

Barth Syndrome

TAZ

Bartter Syndrome, Type 3

CLCNKB

Basal Cell Nevus Syndrome; Gorlin Syndrmoe

PTCH1

Becker Muscular Dystrophy

DMD

Benign Chronic Pemphigus

ATP2C1

Beta Thalassemia

HBB

Beta-Hydroxyisobutyryl Coa Deacylase Deficiency

HIBCH

Birt-Hogg-Dube Syndrome

FLCN

Blepharophimosis, Ptosis, And Epicanthus Inversus; BPES

FOXL2

Blood Group--Kell-Cellano System

KEL

Bloom Syndrome

BLM

Brachydactyly, Type B1

ROR2

Brain Tumor, Posterior Fossa Of Infancy, Familial

SMARCB1

Branchiooculofacial Syndrome; BOFS

TFAP2A

Campomelic Dysplasia With Autosomal Sex Reversal

SOX9

Camurati-Engelmann Disease

TGFB1

Canavan Disease

ASPA

Carbamoyl Phosphate Synthetase I Deficiency; CPS I Deficiency

CPS1

Cardioencephalomyopathy

SCO2

Cardiomyopathy

LMN; RBM20; MYH7; TNNT2; MYBPC3; TNNI3

Carnitine Deficiency

SLC2A10; SLC22A5

Carnitine Palmitoyltransferase II Deficiency

CPT2

Cartilage-Hair Hypoplasia

RMRP

Cerebral Arteriopathy

NOTCH3

Ceroid Lipofuscinosis, Neuronal - Multiple Types

TPP1; PPT1; CTSD

CHARCOT-MARIE-TOOTH DISEASE: Type 1A, Type 1B, Type 2A2, Type 2B, Type 2E, X-Linked

PMP22; MPZ; MFN2; RAB7A; NEFL;GJB1

Cholestasis

ABCB11; ABCB4

Chondrodysplasia Punctata

ARSE

Choroideremia

CHM

Ciliary Dyskinesia

DNAH5

Citrullinemia, Classic

ASS1

Cleidocranial Dysplasia; CCD

RUNX2

Coenzyme Q10 Deficiency

COQ2

Cohen Syndrome

VPS13B

Collagen Disorders

COL4A5

Cone-Rod Dystrophy

GUCY2D

Congenital Adrenal Hyperplasia (CAH)

CYP21A2

Congenital Disorder Of Glycosylation - Multiple Types

PMM2; COG6

Congenital; Megakaryocytic Thrombocytopenia; CAMT

MPL

Corneal Dystrophy

TGFBI

Craniofacial Dysostosis

FGFR2

Craniofrontonasal Syndrome; CFNS

EFNB1

Craniosynostosis

MSX2

Creutzfeldt-Jakob Disease; CJD

PRNP

Currarino Syndrome

MNX1

Cutis Laxa - Multiple Types

ELN; FBLN4; PYCR1

Cystic Fibrosis; CF

CFTR

Cystinosis, Nephropathic

CTNS

Darier-White Disease

ATP2A2

D-Bifunctional Protein Deficiency

HSD17B4

Deafness

GJB2

Dentinogenesis Imperfecta

DSPP

Diamond-Blackfan Anemia - Multiple Genes

RPS20; RPL35A; RPS10; RPS19

Dihydrolipoamide Dehydrogenase Deficiency

DLD

Dihydroxyadenin Urolithiasis

APRT

Donnai-Barrow Syndrome

LRP2

Donohue Syndrome

INSR

Duchenne MUSCULAR DYSTROPHY

DMD

Dyskeratosis Congenita - Multiple Types

TINF2; RTEL1; TERT

Dystonia - Multiple Types

TOR1A; TAF1

Early-Onset Familial Alzheimer Disease;

APP

Ectodermal Dysplasia - Multiple Types

EDAR; EDA

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome

p63

Ehlers-Danlos Syndrome: Type I, IV, VI, VII

COL5A1; COL3A1; PLOD1; ADAMTS2

Emery-Dreifuss Muscular Dystrophy

LMNA; EMD

Epidermolysis Bullosa, Multiple Types

COL7A1; LAMB3; PLEC1; KRT5; LAMA3

Epidermolytic Hyperkeratosis

KRT10

Epilepsy, Pyridoxine-Dependent

ALDH7A1

Epileptic Encephalopathy

CDKL5

Epiphyseal Dysplasia

COMP

Multiple Exostoses: Type I & II

EXT1; EXT2

Fabry Disease

GLA

Facioscapulohumeral Muscular Dystrophy 1A

FRG1

Factor VII Deficiency

F7

Familial Adenomatous Polyposis Syndrome; FAP

APC

Familial Cold Autoinflammatory Syndrome

NLRP3

Familial Mediterranean Fever; MEFV

MEFV

Fanconi Anemia, Complementation Groups: A, C, D2, E, F, G, I, J

FANCA; FANCC; FANCD2; FANCE; FANCF; FANCG; FANCI; BRIP1

Fetal Akinesia Deformation Sequence; FADS

RAPSN

Fragile Site

FMR2

Fragile X Syndrome

FMR1

Fraser Syndrome

FRAS1

Friedreich Ataxia

FRDA; FXN

Galactosemia

GALT

Gangliosidosis

GLB1

Gaucher Disease

GBA

Gaze Palsy, Familial Horizontal, With Progressive Scoliosis

ROBO3

Geroderma Osteodysplasticum

GORAB

Gerstmann-Straussler Disease

PRNP

Glaucoma, Primary Congenital

CYP1B1

Glucose Transport Defect

SLC2A1

Glucose-6-Phosphate Dehydrogenase; G6PD

G6PD

Glutaric Acidemia

GCDH

Glycogen Storage Disease - Multiple Types

G6PC; SLC37A4; GAA; AGL; PHKA2; PYGL

Granulomatous Disease

NCF2; CYBB

Greig Cephalopolysyndactyly Syndrome

GLI3

Griscelli Syndrome With Hemophagocytic Syndrome

RAB27A

Hemophagocytic Lymphohistiocytosis - Multiple Types

PRF1; UNC13D; STX11

Hemophilia A

F8

Hemophilia B

F9

Hereditary Angioedema

SERPING1

Hereditary Breast and Ovarian Cancer Syndrome; HBOC

BRCA1; BRCA2

Hereditary Diffuse Gastric Cancer,HDGC

CDH1

Hereditary Fructose Intolerance

ALDOB

Hereditary Leiomyomatosis And Renal Cell Cancer; HLRCC

FH

Hereditary Motor And Sensory Neuropathy

TRPV4

Hereditary Neuropathic Amyloidosis

TTR

Hereditary Nonpolyposis Colorectal Cancer; HNPCC

MSH; MSH6; MLH1; PMS2

Hereditary Pancreatitis

PRSS1

Hermansky-Pudlak Syndrome 1; HPS1

HPS1

HLA Matching

 

Holoprosencephaly

SIX3

Holt-Oram Syndrome

TBX5

Homocystinuria

CBS; MTHFR

Hoyeraal-Hreidarsson Syndrome

DKC1

Huntington Disease

HTT

Hurler Syndrome

IDUA

Hyalinosis

ANTXR2

Hydrocephalus

L1CAM

Hyperglycinemia

AMT; GLDC

Hyper-IgE Recurrent Infection Syndrome

STAT3; DOCK8

Hyperinsulinemic Hypoglycemia

ABCC8

Hypertrophic Neuropathy Of Dejerine-Sottas

PRX

Hypogonadotropic Hypogonadism

KAL1

Hypomagnesemia

CLDN16

Hypophosphatasia

ALPL

Hypophosphatemic Rickets

PHEX

Ichthyosis - Multiple Types

MBTPS 2; TGM1; ABCA12; ELOVL4

Immunodeficiency

CD247; CD40LG

Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked; IPEX

FOXP3

Incontinentia Pigmenti; IP

IKBKG

Isovaleric Acidemia

IVD

Joubert Syndrome

INPP5E; TMEM216; CSPP1; AHI1; TMEM67; C5orf42

Juvenile Myelomonocytic Leukemia; JMML

NRAS

Kallmann Syndrome

FGFR1

Kennedy Spinal And Bulbar Muscular Atrophy

AR

Krabbe Disease

GALC

Larsen Syndrome

FLNB

Leber Congenital Amaurosis, Multiple Types

RPE65; AIPL1; LCA4; RPGRIP1

Leigh Syndrome

NDUFS8; SURF1

Leri-Weill Dyschondrosteosis

SHOX

Lesch-Nyhan Syndrome

HPRT1

Leukocyte Adhesion Deficiency

ITGB2

Leukoencephalopathy

EIF2B2; EIF2B4; EIF2B5

Li-Fraumeni Syndrome

TP53

Lipoid Congenital Adrenal Hyperplasia

STAR

Lissencephaly

ARX

Loeys-Dietz Syndrome

TGFBR2

Long Qt Syndrome

KCNQ1; KCNH2

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

HADHA

Lymphedema-Distichiasis Syndrome

FOXC2

Lymphoproliferative Syndrome

SH2D1A

Machado-Joseph Disease; MJD

ATXN3

Maple Syrup Urine Disease; MSUD

BCKDHB

Marfan Syndrome

FBN1

Meckel Gruber Syndrome

MKS1; CEP290; CC2D2A; TCTN2

Medium-Chain Acyl-CoA Dehydrogenase; MCAD

ACADM

MEGDEL; 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome

SERAC1

Mental Retardation

HERC2

Metachromatic Leukodystropy

ARSA

Metaphyseal Chondrodysplasia

COL10A1

Methylmalonic Aciduria

MUT; MMAB

Microcephalic Osteodysplastic Primordial Dwarfism

RNU4ATAC

Microcephaly - Multiple Genes

WDR62; CDK5RAP2; ASPM

Microcoria-Congenital Nephrosis Syndrome

LAMB2

Microphthalmia

VSX2

Microtubule-Associated Protein Tau

MAPT

Migraine, Familial Hemiplegic

CACNA1A

Minicore Myopathy With External Ophthalmoplegia

RYR1

Mitochondrial Complex I Deficiency Due To ACAD9 Deficiency

ACAD9

Mitochondrial DNA Depletion Syndrome 10 (Cardiomyopathic Type)

AGK

Morquio Syndrome

GALNS

Mosaic Variegated Aneuploidy Syndrome

BUB1B

Mucolipidosis

GNPTAB

Mucopolysaccharidosis - Multiple Types

IDS; SGSH; ARSB

Multiple Acyl-CoA Dehydrogenase Deficiency; MADD

ETFA

Multiple Endocrine Neoplasia, MEN; Type I, Type IIA, Type IV

MEN1; RET; CDKN1B

Muscular Dystrophy, Congenital Merosin-Deficient

LAMA2

Muscular Dystrophy-Dystroglycanopathy

FKTN; FKRP; POMT1

Myasthenic Syndrome

CHRNE

Myoclonic Epilepsy

NHLRC1

Myoglobinuria

LPIN1

Myopathy

MEGF10; DES

Myotonia Congenita, Autosomal Dominant

CLCN1

Myotonic Dystrophy

DMPK; CNBP

Myotubular Myopathy

MTM1

N-Acetylglutamate Synthase Deficiency

NAGS

Nail-Patella Syndrome

LMX1B

Nemaline Myopathy

NEB

Nephrogenic Syndrome Of Inappropriate Antidiuresis

AVPR2

Nephrosis

NPHS1

Neuraminidase Deficiency

NEU1

Neurofibromatosis

NF1; NF2

Neuropathy - Multiple Types

SPTLC1; IKBKAP; DST

Neutropenia

ELANE

Niemann-Pick Disease

SMPD1; NPC1; NPC2

Noonan Syndrome

PTPN11; KRAS; SOS1

Norrie Disease

NDP

Ocular Albinism

GPR143

Oculocutaneous Albinism; OCA1, OCA2, OCA3

TYR; OCA2; TYRP1

Omenn Syndrome

RAG1

Optic Atrophy

OPA1

Ornithine Transcarbamylase Deficiency

OTC

Osteogenesis Imperfecta

COL1A1; COL1A2; PPIB

Osteopetrosis

CLCN7; TCIRG1

Pachyonychia Congenita

KRT6A

Paramyotonia Congenita Of Von Eulenburg

SCN4A

Pelizaeus-Merzbacher-Like Disease

PLP1

Periodic Fever, Familial

TNFRSF1A

Periventricular Heterotopia

FLNA

Perlman Syndrome

DIS3L2

Peroxisomal Acyl-CoA Oxidase Deficiency

ACOX1

Peutz-Jeghers Syndrome; PJS

STK11

Pfeiffer Syndrome

FGFR1

Phenylketonuria; PKU

PAH

Polycystic Kidney Disease; ADPKD and ARPKD

PKD1; PKD2; PKHD1

Polymicrogyria

GPR56

Popliteal Pterygium Syndrome

IRF6

Porphyria, Congenital Erythropoietic

UROS

Propionic Acidemia

PCCA; PCCB

Prosaposin Deficiency

PSAP

Pseudohypoparathyroidism, TYPE IA and TYPE IB

GNAS

Pseudovaginal Perineoscrotal Hypospadias

SRD5A2

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

PNPO

Pyruvate Kinase Deficiency Of Red Cells

PKLR

Renal Hypodysplasia/Aplasia

RET

Renal Tubular Acidosis

ATP6V0A4

Restrictive Dermopathy

ZMPSTE24

Retinitis Pigmentosa

RHO; RP2; RPGR

Retinoblastoma; RB1

RB1

Retinoschisis

RS1

Rett Syndrome

MECP2

Rhesus Blood Group

RHCE; RHD

Saethre-Chotzen Syndrome

TWIST1

Sandhoff Disease

HEXB

Severe Combined Immunodeficiency; SCID

RAG2; IL2RG

Sheldon-Hall Syndrome

TNNI2

Shwachman-Diamond Syndrome

SBDS

Sickle Cell Anemia

HBB

Smith-Lemli-Opitz Syndrome

DHCR7

Sonic Hedgehog

SHH

Sotos Syndrome

NSD1

Spastic Paraplegia

ATL1; SPAST

Spinal Muscular Atrophy; SMA

SMN1; IGHMBP2

Spinocerebellar Ataxia: Type 1, Type 2, Type 6, Type 7, Type 8

ATXN1; ATXN2; CACNA1A; ATXN7; ATNX8OS

Stargardt Disease

ABCA4

Stickler Syndrome: Type I & Type II

COL2A1; COL11A1

Succinic Semialdehyde Dehydrogenase Deficiency

ALDH5A1

Sulfocysteinuria

SUOX

Surfactant Metabolism Dysfunction

ABCA3

Symphalangism

NOG

Tay-Sachs Disease

HEXA

Telangiectasia, Hereditary Hemorrhagic; HHT

ENG; ACVRL1

Temtamy Syndrome

C12orf57

Thrombasthenia Of Glanzmann And Naegeli

ITGA2B

Thrombocythemia

SH2B3

Thrombocytopenia

ITGB3

Thrombocytopenia-Absent Radius Syndrome; TAR

RBM8A

Thrombophilia Due To Protein S Deficiency

PROS1

Thrombotic Thrombocytopenic Purpura

ADAMTS13

Treacher Collins Syndrome

POLR1D; TCOF1

Tuberous Sclerosis: Type 1 & Type 2

TSC1; TSC2

Tyrosinemia

FAH

Ulnar Deficiency

RAPGEF6

Ulnar-Mammary Syndrome

TBX3

Usher Syndrome - Multiple Types

MYO7A; PCDH15

Van Der Woude Syndrome

IRF6

Very Long-Ahain acyl-CoA Dehydrogenase; VLCAD

ACADVL

Vici Syndrome

EPG5

Von Hippel-Lindau Syndrome; VHL

VHL

Waardenburg Syndrome

MITF

Warburg Micro Syndrome

RAB3GAP1

Wilson Disease

ATP7B

Wiskott-Aldrich Syndrome

WAS

Wolfram Syndrome

WFS1

Wolman Disease

LIPA

Zellweger Syndrome

PEX1; PEX; PXMP2; PEX12, PEX13