MODE OF INHERITANCE
DISEASE
Cystic fibrosis
COMMENTS
Only variants associated with classical Cystic Fibrosis are reported. Intron 8 polymorphic region in CFTR gene (5T allele) is only reported when the NM_000492.4:c.350G>A (p.Arg117His) variant is detected.
MODE OF INHERITANCE
DISEASE
Alpha-thalassemia
COMMENTS
Whole gene analysis is not performed. Included variants: --MED ; --SEA ; --THAI ; - α3.7 ; - α4.2 ; - α20.5 ; --FIL; Hb Constant Spring (NM_000517.4:c.427T>C)
MODE OF INHERITANCE
DISEASE
Deafness autosomal recessive type 1A
COMMENTS
Variants associated with a mild phenotype are not reported.
MODE OF INHERITANCE
DISEASE
Spinal Muscular Atrophy
COMMENTS
Only deletion of the exon 7 in SMN1 gene is included. No sequencing or deletion/duplication analysis is conducted in other regions of this gene. This test does not detect “silent” carriers of SMA, who have two copies of the SMN1 gene on one chromosome and none on the other.
MODE OF INHERITANCE
DISEASE
Beta-thalassemia; Sickle cell disease
COMMENTS
MODE OF INHERITANCE
DISEASE
Fragile X syndrome
COMMENTS
5' UTR CGG trinucleotide repeats are analysed. Only alleles in the range of full mutation (>200 repeats) and premutation (55-200 repeats) are reported. Mosaicism, including gonadal mosaicism, may not be detected.
MODE OF INHERITANCE
DISEASE
Hemophilia A
COMMENTS
Detection of intron 22 inversion in the F8 gene is also included
MODE OF INHERITANCE
DISEASE
X-linked recessive ocular albinism; Congenital Nystagmus type 6
COMMENTS
MODE OF INHERITANCE
DISEASE
Duchenne muscular dystrophy; Becker muscular dystrophy
COMMENTS
MODE OF INHERITANCE
DISEASE
Mucopolysaccharidosis type 2
COMMENTS
MODE OF INHERITANCE
DISEASE
Androgen insensitivity syndrome
COMMENTS
The current testing method does not assess CAG trinucleotide repeats in exon 1 in this gene.
MODE OF INHERITANCE
DISEASE
Hemophilia B
COMMENTS
MODE OF INHERITANCE
DISEASE
Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia; X-linked thrombocytopenia
COMMENTS
MODE OF INHERITANCE
DISEASE
Hypohidrotic ectodermal dysplasia type 1
COMMENTS
MODE OF INHERITANCE
DISEASE
X-linked centronuclear myopathy
COMMENTS
MODE OF INHERITANCE
DISEASE
PRPS1 related disorders
COMMENTS
MODE OF INHERITANCE
DISEASE
Alport syndrome type 1
COMMENTS
MODE OF INHERITANCE
DISEASE
Adrenomyeloneuropathy
COMMENTS
MODE OF INHERITANCE
DISEASE
Choroideremia
COMMENTS
MODE OF INHERITANCE
DISEASE
X-linked heterotaxia; VACTERL with hydrocephalus
COMMENTS
MODE OF INHERITANCE
DISEASE
Fabry disease
COMMENTS
MODE OF INHERITANCE
DISEASE
AIFM1 related disorders
COMMENTS
MODE OF INHERITANCE
DISEASE
IPEX syndrome
COMMENTS
MODE OF INHERITANCE
DISEASE
Retinoschisis
COMMENTS
MODE OF INHERITANCE
DISEASE
Cerebral creatine deficiency syndrome type 1
COMMENTS
MODE OF INHERITANCE
DISEASE
X-linked intellectual developmental disorder type 1
COMMENTS
MODE OF INHERITANCE
DISEASE
Barth syndrome
COMMENTS
MODE OF INHERITANCE
DISEASE
RETT related disorders
COMMENTS
MODE OF INHERITANCE
DISEASE
Joubert syndrome type 10
COMMENTS
MODE OF INHERITANCE
DISEASE
Lissencephaly type 1; Subcortical band heterotopia
COMMENTS
MODE OF INHERITANCE
DISEASE
X-linked lymphoproliferative syndrome type 2
COMMENTS
MODE OF INHERITANCE
DISEASE
X-linked epilepsy-learning disabilities-behavior disorders syndrome; X-linked intellectual developmental disorder type 50
COMMENTS
MODE OF INHERITANCE
DISEASE
Ornithine transcarbamylase deficiency
COMMENTS
MODE OF INHERITANCE
DISEASE
FG syndrome type 4; X-linked intellectual developmental disorder, Najm type
COMMENTS
