| Cytogenetic Tests
Turner's Syndrome
Klinefelter's Syndrome
Patau's syndrome
Edward's syndrome
Down Syndrome
Fanconi Anemia
Disorders of sexual development
Chronic Myelogenous Leukemia
Primary amenorrhea
Infertility
Recurrent pregnancy failure
Mental retardation
| Molecular Genetic Tests
Mutation analysis for the diseases including
Spinal muscular atrophy
Disorders of sexual development
Duchenne Muscular Dystrophy
Thalassemia
Huntington`s Disease
Chronic Myelogenous Leukemia
Haemophilia
Biochemical Tests
Homocysteine estimation
Folic acid estimation
Vitamin B-12 estimation
Prenatal Tests
Chorionic vili sampling (8-12 weeks pregnancy)
Amniocentesis (10-16 weeks pregnancy)
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| Diagnostic tests for disorders other than those listed can be offered
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Ordinarily cases referred from S.S. hospital, B.H.U. are taken up
Methods used for diagnosis:
Human whole blood lymphocyte culture
Chromosome banding and Karyotyping
FISH (Chromosomal rearrangements/numerical anomaly)
Mutation/SNP detection with ARMS-PCR and PCR RFLP
Exon deletion detection with multiplex
PCR
Gene mutation with sequencing
Carrier detection with microsatellite typing
Inherited and sporadic and cryptic chromosomal anomalies with Microarray
Genomic copy number variation detection with q-PCR
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