Laboratory

Genetic Diagnostics: Diagnosis for common and rare genetic disorders is available in the departmental laboratories and includes latest technologies like cytogenetic microarray and next generation sequencing (NGS). In addition to traditional karyotyping, over the last 10 years the tests based on the following techniques are established.

  • 1. MLPA: Duchenne muscular dystrophy, spinal muscular dystrophy, alpha thalassemia, Hunter syndrome, Von Hippel Lindau syndrome, subtelomeric microdeletions / duplications, common disorders for mental retardation, Y chromosome microdeletions
  • 2. Cytogenetic microarray
  • 3. Sanger Sequencing: More than 50 genes
  • 4. NGS: Computational analysis and bioinformatics
  • 5. Triplet Repeat Disorders: More than 5 disorders
  • 6. QF-PCR
  • 7. Enzyme assays: For Inborn Errors of Metabolism

INVESTIGATIONS LIST

Cytogenetics
1 Cytogenetic microarray
2 Karyotype for antenatal diagnosis
3 Karyotyping from blood
4 Karyotyping from skin
5 MLPA for subtelomeric region
6 MLPA for common microdeletion / microduplication syndromes
7 QF PCR for common aneuploidies
8 MLPA for common aneuploidies

Biochemical Genetics
1 Alpha Galactosidase A activity (Fabry Disease)
2 Arylsulfatase A Activity (Metachromatic Leucodystrophy)
3 Arylsulfatase B Activity (Marateaux Lamy Syndrome)
4 Biotinidase Activity
5 G6PDH enzyme activity
6 Glucosidase activity ( Gaucher disease)
7 QHexosaminnidase A & B activity (Tay Sachs disease & Sandoff disease)
8 Beta-galactosidase (GM1 Gangliosidosis)

Genetic Hematology
1 Autohemolysis test
2 Beta Thalassemia screening - HPLC for Hemoglobin
3 Osmotic Fragility Curve
4 Plasma Hemoglobin
5 Hb separation & Quantification by HPLC
6 Porphobilinogen

Monogenic Disorders - Mutation Analysis
1 Sequencing Hemophilia B gene
2 Sequencing MECP2 gene
3 Sequencing MEN2 (One common mutation)
4 Sequencing VHL
5 Sequencing Apert (2 common mutations)
6 Sequencing for Connexin 26 gene
7 Sequencing for Connexin 26 gene
8 Sequencing for Achondroplasia [One common mutation]
9 Sequencing for HBB gene - Beta Thalassemia
10 HLA B27
11 MLPA for Spinal Muscular Atrophy [SMN1]
12 MLPA for copies of alpha globin gene
13 Myotonic Dystrophy
14 Molecular diagnosis of Fragile X syndrome
15 Molecular Genotyping of Spinocerebellar ataxia
16 Friedreich ataxia (TP-PCR)
17 Factor 8 inv intron 22 for Hemophilia A
18 Sequencing - Hemachromatosis (2 common mutations)
19 Sequencing - Hemachromatosis (2 common mutations)
20 MLPA for Duchenne Muscular Dystrophy
21 Sequencing Caffey Disease (one common mutation)
22 Sequencing GSD1A gene

Procedure
1 Amniocentesis
2 Chrionic Villus Sampling
3 Fetal Autopsy
4 Fetal Blood Sampling
5 Fetal ECHO and Doppler
6 High resolution USG for fetal malformation
7 Obstetric Ultrasound