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BRCA-1/BRCA-2 Mutation Analysis by NGS **

TSC1 gene analysis **

TSC1 & TSC2 gene analysis **

Muscular dystrophy &
congenital myopathy gene panel **

Hepatitis B Virus (HBV) Genotyping and Drug
Resistance **

Lynch Syndrome/HNPCC gene panel (MLH1, MSH2, MSH6, PMS1, EPCAM, MSH3, MLH3,
PMS2)

Cystic megalencephaly (MLC1) deletion/duplication analysis
**

Leukemia MRD for T ALL **

Gastrointestinal panel by Filmarray Biofire

Krabbe disease (GALC) gene analysis **

CEL/HES (Chronic eosinophilic leukemia/hyper eosinophilic syndrome) prognostic gene panel (PDGFRA and Kit
mutation) **

Microarray 315K**