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CGT Basic

Test based on medical societies’ recommendations.

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

Features

Genes: 8

Variants: 630

Numbers of diseases:  10.6%

Estimated carrier rate (%)*: 1.06

Estimated mean of mutations/individual**: 1.06

Mean depth:  350X

Complementary tests:  HBA, FMR1, SMN1

Sample: Blood or saliva

TAT: 20 working days

Version 1.0

GeneDisease
CFTRCystic fibrosis
FMR1Fragile X syndrome
G6PDHemolytic anemia, G6PD deficient (favism)
GJB2Deafness, autosomal recessive, type 1A
HBA1Thalassemia, alpha-
HBA2Thalassemia, alpha-
HBBHBB-related hemoglobinopathy
SMN1Spinal muscular atrophy
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