Carrier Screening Gene Lists | Advanced 500 & Premium 787 | Cytogenomix® Malaysia

Expanded Carrier Screening Gene Lists

Complete lists of genes included in our Advanced 500 and Premium 787 panels

Advanced 500
447 Genes
Premium 787
620 Genes
Deletion/Duplication Detection: Both panels detect copy number variants (CNVs) ≥2 exons, providing comprehensive coverage beyond single nucleotide variants.
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Showing 20 of 620 genes
AR X-Linked Unknown
Gene Condition Inheritance Panel
VLDLR Cerebellar ataxia, mental retardation, and dysregulation syndrome AR Premium
VPS11 Hypomyelinating leukodystrophy-12 AR Premium
VPS13A Choreoathetosis AR Advanced Premium
VPS13B Cohen syndrome AR Advanced Premium
VPS45 Severe congenital neutropenia, VPS45-related AR Advanced Premium
VPS53 Pontocerebellar hypoplasia type 2E AR Advanced Premium
VRK1 Pontocerebellar hypoplasia type 1A AR Advanced Premium
VSX2 Microphthalmia with or without coloboma AR Advanced Premium
VWF Von Willebrand disease AR Advanced Premium
WAS WAS-related hematopoietic disorder XL Advanced Premium
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations AR Advanced Premium
WFS1 Wolfram syndrome 1 AR Advanced Premium
WISP3 Progressive pseudorheumatoid dysplasia AR Advanced Premium
WNT10A WNT10A-related ectodermal dysplasia AR Advanced Premium
WRN Werner syndrome AR Advanced Premium
XPA Xeroderma pigmentosum, group A AR Advanced Premium
XPC Xeroderma pigmentosum, group C AR Advanced Premium
ZBTB24 Immunodeficiency-centromeric instability-facial anomalies syndrome 2 AR Premium
ZFYVE26 Spastic paraplegia 15 AR Advanced Premium
ZNF469 Brittle cornea syndrome 1 AR Premium
Fragile X Syndrome (FMR1) - Both panels include full CGG trinucleotide repeat analysis of the FMR1 gene, detecting normal, intermediate, premutation, and full mutation alleles.
Inheritance Key: AR = Autosomal Recessive | XL = X-Linked | UK = Unknown/Complex