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CGT Essential

Cost-effective solution

Features:

Genes: 19

Variants: 2209

Numbers of diseases: 20

Estimated carrier rate (%)*: 18%

Estimated mean of mutations/individual: 1.08

Mean depth: 1000X

Complementary tests: FMR1, SMN1

Sample: Blood or saliva

TAT: 14 working days

All X-linked disorders, are only analysed in women.

Version 1.0

GeneDisease
ACADMMedium-chain acyl-CoA dehydrogenase deficiency
AGXTHyperoxaluria, primary, type 1
ARSAMetachromatic leukodystrophy
BTDBiotinidase deficiency
CBSHomocystinuria due to cystathionine beta-synthase
CFTRCystic fibrosis
DHCR7Smith-Lemli-Opitz syndrome
EMDEmery-Dreifuss muscular dystrophy, type 1, X-linked
FMR1Fragile X syndrome
GAAGlycogen storage disease, type 2
GALTGalactosemia
GLAFabry disease
HADHALCHAD deficiency
HBBHBB-related hemoglobinopathy
MMACHCMethylmalonic aciduria and homocystinuria, cblC type
PAHPhenylketonuria
PMM2Congenital disorder of glycosylation, type 1A
SLC26A2Achondrogenesis, type 1B (diastrophic dysplasia)
SMN1Spinal muscular atrophy
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