Myriad Foresight^® Carrier Screen Diseases

Clinical Resources

Disease Reference Book

Foresight Residual Risk Table

Negative Sample Report

Positive Carrier Sample Report

Merged Positive Carrier Sample Report

Universal Plus condition list

The list below shows what the Foresight Carrier Screen looks for. Each link will provide greater information on the disease listed.

A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z

A

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3-methylcrotonyl-CoA carboxylase deficiency, MCCC2-related

6-pyruvoyl-tetrahydropterin synthase deficiency

adenosine deaminase deficiency

Aicardi-Goutières syndrome

alpha thalassemia, HBA1/HBA2-related

alpha-mannosidosis

alpha-sarcoglycanopathy

Alport syndrome, COL4A3-related

Alport syndrome, COL4A4-related

Alstrom syndrome

Andermann syndrome

argininosuccinic aciduria

aspartylglucosaminuria

ataxia with vitamin E deficiency

ataxia-telangiectasia

ATP7A-related disorders

autoimmune polyglandular syndrome type 1

autosomal recessive osteopetrosis type 1

autosomal recessive polycystic kidney disease, PKHD1-related

autosomal recessive spastic ataxia of Charlevoix-Saguenay

B

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Bardet-Biedl syndrome, BBS1-related

Bardet-Biedl syndrome, BBS10-related

Bardet-Biedl syndrome, BBS12-related

Bardet-Biedl syndrome, BBS2-related

BCS1L-related disorders

beta globin-related hemoglobinopathy (including beta thalassemia and sickle cell disease)

beta-ketothiolase deficiency

beta-sarcoglycanopathy

biotinidase deficiency

C

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Canavan disease

carbamoylphosphate synthetase I deficiency

carnitine palmitoyltransferase IA deficiency

carnitine palmitoyltransferase II deficiency

cartilage-hair hypoplasia

CEP290-related disorders

cerebrotendinous xanthomatosis

citrullinemia type 1

classical-like Ehlers-Danlos syndrome, TNXB-related

CLN3-related disorders

CLN5-related neuronal ceroid lipofuscinosis

CLN8-related neuronal ceroid lipofuscinosis

combined pituitary hormone deficiency, PROP1-related

congenital adrenal hyperplasia, CYP11B1-related

congenital adrenal hyperplasia, CYP21A2-related

congenital disorder of glycosylation, ALG6-related

congenital disorder of glycosylation, MPI-related

congenital disorder of glycosylation, PMM2-related

Costeff optic atrophy syndrome

creatine transporter deficiency

cystic fibrosis

D-F

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D-bifunctional protein deficiency

delta-sarcoglycanopathy

dihydrolipoamide dehydrogenase deficiency

Donnai–Barrow syndrome

dysferlinopathy

dystrophic epidermolysis bullosa

dystrophinopathy (including Duchenne/Becker muscular dystrophy)

ERCC2-related disorders

ERCC6-related disorders

ERCC8-related disorders

EVC-related Ellis-van Creveld syndrome

EVC2-related Ellis-van Creveld syndrome

familial dysautonomia

familial hemophagocytic lymphohistiocytosis, PRF1-related

familial hyperinsulinism, ABCC8-related

familial hyperinsulinism, KCNJ11-related

familial Mediterranean fever

Fanconi anemia complementation group A

Fanconi anemia, FANCC-related

FKRP-related disorders

FKTN-related disorders

fragile X syndrome

Fraser syndrome, GRIP1-related

free sialic acid storage disorders

G-H

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galactokinase deficiency

gamma-sarcoglycanopathy

Gaucher disease

GLB1-related disorders

glutaric acidemia, GCDH-related

glycine encephalopathy, AMT-related

glycine encephalopathy, GLDC-related

glycogen storage disease type Ia

glycogen storage disease type Ib

glycogen storage disease type III

GNPTAB-related disorders

HADHA-related disorders

hereditary fructose intolerance

Hermansky-Pudlak syndrome, HPS1-related

hexosaminidase A deficiency

HMG-CoA lyase deficiency

holocarboxylase synthetase deficiency

homocystinuria, CBS-related

hydrolethalus syndrome

hypophosphatasia

I-L

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isovaleric acidemia

Joubert syndrome 2

Joubert syndrome, AHI1-related

junctional epidermolysis bullosa, LAMA3-related

junctional epidermolysis bullosa, LAMB3-related

junctional epidermolysis bullosa, LAMC2-related

Leigh syndrome, French-Canadian type

lipoid congenital adrenal hyperplasia

lysosomal acid lipase deficiency

M

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maple syrup urine disease type Ia

maple syrup urine disease type Ib

maple syrup urine disease type II

medium-chain acyl-CoA dehydrogenase deficiency

megalencephalic leukoencephalopathy with subcortical cysts

metachromatic leukodystrophy

methylmalonic acidemia, cblA type

methylmalonic acidemia, cblB type

methylmalonic acidemia, MMUT-related

methylmalonic aciduria and homocystinuria, cblC type

MKS1-related disorders

mucolipidosis III gamma

mucolipidosis IV

mucopolysaccharidosis type I

mucopolysaccharidosis type II

mucopolysaccharidosis type IIIA

mucopolysaccharidosis type IIIB

mucopolysaccharidosis type IIIC

muscular dystrophy, LAMA2-related

MYO7A-related disorders

N-O

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NAGA-related disorders

NEB-related nemaline myopathy

nephrotic syndrome, NPHS1-related

nephrotic syndrome, NPHS2-related

neuronal ceroid lipofuscinosis, CLN6-related

neuronal ceroid lipofuscinosis, PPT1-related

Niemann-Pick disease type C1

Niemann-Pick disease type C2

Niemann-Pick disease, SMPD1-related

Nijmegen breakage syndrome

nonsyndromic hearing loss, GJB2-related

oculocutaneous albinism, OCA2-related

oculocutaneous albinism, TYR-related

Opitz G/BBB syndrome, MID1-related

ornithine transcarbamylase deficiency

P-R

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PCCA-related propionic acidemia

PCCB-related propionic acidemia

PCDH15-related disorders

Pendred syndrome

peroxisome biogenesis disorder type 1

peroxisome biogenesis disorder type 3

peroxisome biogenesis disorder type 4

peroxisome biogenesis disorder type 5

peroxisome biogenesis disorder type 6

PEX7-related disorders

phenylalanine hydroxylase deficiency

PLP1-related disorders

POLG-related disorders

POMGNT1-related disorders

primary carnitine deficiency

primary hyperoxaluria type 1

primary hyperoxaluria type 2

primary hyperoxaluria type 3

primary microcephaly, MCPH1-related

pycnodysostosis

pyruvate carboxylase deficiency

RTEL1-related disorders

S-U

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Sandhoff disease

short-chain acyl-CoA dehydrogenase deficiency

Sjogren-Larsson syndrome

SLC26A2-related disorders

Smith-Lemli-Opitz syndrome

spastic paraplegia type 15

spinal muscular atrophy

spinocerebellar ataxia, ANO10-related

spondylothoracic dysostosis

TGM1-related autosomal recessive congenital ichthyosis

TPP1-related neuronal ceroid lipofuscinosis

tyrosine hydroxylase deficiency

tyrosinemia type I

tyrosinemia type II

USH1C-related disorders

USH2A-related disorders

usher syndrome type 3

V-X

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very-long-chain acyl-CoA dehydrogenase deficiency

X-linked adrenal hypoplasia congenita

X-linked adrenoleukodystrophy

X-linked Alport syndrome

X-linked juvenile retinoschisis

X-linked myotubular myopathy

X-linked retinal dystrophy, RPGR-related

X-linked severe combined immunodeficiency

xeroderma pigmentosum group A

xeroderma pigmentosum group C