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Detects known family-specific variants, used for diagnosing inherited genetic disorders.
6,520 THB
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Detects mutations in the FGFR2 gene, used to diagnose craniosynostosis syndromes like Apert syndrome.
7,245 THB
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Detects mutations in the FGFR3 gene, associated with achondroplasia and other skeletal disorders.
7,245 THB
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Detects 5q chromosome deletion, used in diagnosing myelodysplastic syndromes.
10,500 THB
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Detects 16p13.3 deletions associated with Rubinstein-Taybi syndrome using FISH analysis.
9,188 THB
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Detects CGG-repeat expansions in the FMR1 gene, used to diagnose Fragile X syndrome.
11,400 THB
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Identifies mutations in the FXN gene, associated with Friedreich ataxia.
12,180 THB
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Screens for common G6PD mutations prevalent in Asian populations, associated with G6PD deficiency.
8,400 THB
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