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.
Clear
Showing 47 of 447 genes
AR X-Linked Unknown
Gene Condition Inheritance Panel
SURF1 Leigh syndrome, SURF1-related AR Advanced Premium
TAFAZZIN Barth syndrome XL Advanced Premium
TAT Tyrosinemia type II AR Advanced Premium
TBC1D24 Doors syndrome AR Advanced Premium
TCIRG1 Osteopetrosis, TCIRG1-related AR Advanced Premium
TECPR2 Spastic paraplegia 49 AR Advanced Premium
TFR2 Hemochromatosis, type 3 AR Advanced Premium
TGM1 Congenital ichthyosis AR Advanced Premium
TH Tyrosine hydroxylase deficiency AR Advanced Premium
TMC1 Nonsyndromic hearing loss 7 AR Advanced Premium
TMEM216 TMEM216-related ciliopathies AR Advanced Premium
TNXB Ehlers-danlos syndrome AR Advanced Premium
TPO Thyroid dyshormonogenesis, TPO-related AR Advanced Premium
TPP1 Neuronal ceroid lipofuscinosis, TPP1-related AR Advanced Premium
TREX1 Aicardi-Goutières syndrome 3 AR Advanced Premium
TRIM32 TRIM32-related disorders AR Advanced Premium
TRIM37 Mulibrey nanism AR Advanced Premium
TRMU Liver failure, acute infantile AR Advanced Premium
TSEN54 Pontocerebellar hypoplasia type 2A AR Advanced Premium
TSFM Combined oxidative phosphorylation deficiency, TSFM-related AR Advanced Premium
TSHB Congenital hypothyroidism, TSHB-related AR Advanced Premium
TSHR Congenital hypothyroidism, TSHR-related AR Advanced Premium
TTN Familial dilated cardiomyopathy AR Advanced Premium
TTPA Ataxia with Vitamin E Deficiency AR Advanced Premium
TYMP Mitochondrial neurogastrointestinal encephalopathy disease AR Advanced Premium
TYR Oculocutaneous albinism types 1A and 1B AR Advanced Premium
TYRP1 Oculocutaneous albinism, type III AR Advanced Premium
UGT1A1 Crigler-Najjar Syndrome AR Advanced Premium
UPB1 Beta-ureidopropionase deficiency AR Advanced Premium
USH1C USH1C-related disorders AR Advanced Premium
USH2A Usher syndrome, type 2A AR Advanced 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
ZFYVE26 Spastic paraplegia 15 AR Advanced 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