The Molecular Genetic Laboratory in KMGC is performing molecular genetic testing for diagnosis of many genetic disorders. Moreover, it offers a DNA banking facility for the genetic diseases, with uncharacterized genes, for future investigation. Now a day the laboratory is performing tests for the following genetic disorders:

Serial	Disease	Test used
1	Prader Willi/Angelman syndrome	Methylation detection
2	Myotonic dystrophy	PCR detection of repeat size
3	Huntington Chorea	PCR detection of repeat size
4	PhenylKetonUria (PKU)	Screening for Common Mutations
5	X-linked Hyper IgM Disease	Mutation screening
6	Non-Polyposis Colon Cancer	Screening for Known Mutation in MSH2 Gene
7	Kennedy Disease	PCR detection of repeat size
8	Fragile X (A & E)	PCR detection of repeat expansion
9	Sensory Neural Hearing Loss (AR)	Detection of Common Mutations
10	Metachromatic Leukodystrophy	Detection of Common Mutations
11	Neuronal Ceroid-Lipofucinosis (Batten Disease)	Detection of Common Mutations
12	Spinal Muscular Atrophy	Detection of Common Mutations
13	Norrie’s Disease	Mutation Screening
14	Breast Cancer	Mutation Screening
15	Retinoblastoma	Mutation Screening
16	Male Infertility	Y chromosome Micro Deletion
17	Von Hipple Lindeu (VHL)	Mutation Screening
18	Chloride Loosing Diarrhea (CLD)	Mutation Screening
19	SRY gene Mutation Analysis (Swyer Synd., Pure Gonadal Dysgenesis)	Mutation Screening
20	Testicular Feminization Syndrome	Mutation Screening of AR Gene
21	Turner Syndrome	Cryptic Y-Chromosome Mosaicism
22	Sex Determination	Y and X Chromosome Sequence Detection

N.B.:

Screening for mutations in other genes can be done with special arrangement. Please do not hesitate to contact us if you got a possible genetic disorder and you need to screen for its molecular pathology even if it is not present in the above list.