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Detects mutations in the GJB2 gene, particularly exon 2, which are associated with congenital deafness.
7,770 THB
Detects mutations in the GNE gene, associated with distal myopathy with rimmed vacuoles (DMRV).
31,050 THB
Detects mutations in the GLA gene associated with Fabry disease using next-generation sequencing (NGS).
24,192 THB
Detects the genetic deletions or rearrangements associated with Alagille syndrome using FISH.
8,463 THB
Detects mutations in the G6PD gene, commonly associated with G6PD deficiency, a condition leading to hemolytic anemia.
22,644 THB
Detects deletions or uniparental disomy associated with Prader-Willi syndrome using FISH.
8,820 THB
Detects deletions in exon 7 of the SMN1 gene, responsible for spinal muscular atrophy (SMA).
11,235 THB
Detects the XmnI polymorphism in the HBG2 gene, which can influence the severity of beta-thalassemia.
7,176 THB