Conventional Sanger Sequencing Based Assays (Total 200 Assays for Rare Single Gene Disorders)

 Inborn Errors of Metabolism

 Endocrine Disorders such as Congenital Adrenal Hyperplasia, 5-Alpha Reductase Deficiency, Growth Hormone Deficiency etc

 Sex Reversal Disorders

 Skeletal Dysplasias such as Achondroplasia, Hypochondroplasia etc

 Dysmorphic Syndromes such as Noonan Syndrome

 Hematolological Syndromes such as Beta Thalassemia

 Neurological Disorders such as Cystic Megalencephaly, Canavan disease, Non Syndromic Deafness, etc.

Next Generation Sequencing Panels

 Neuromuscular Disorders

 Genetic Skin Disorders

 Endocrine Disorders

 Targeted (Clinical) Exome Panel

 Complete Exome Panel

Chromosomal Microarray Analysis

Repeat Disorders

 Fragile X (CGG Repeat Analysis)

 Huntington Disease

 Myotonic Dystrophy

 SCA

PCR and MLPA based Assays for: Duchenne Muscular Dystrophy (DMD), Spinal Muscular Atrophy (SMA), Beckwith Weidemann Syndrome, Congenital Adrenal Hyperplasia (CAH)

Enzyme assays for metabolic disease

Chromosomal Analysis from Blood, Products of Conception, Amniotic Fluid or Chorion Villus Sample

Newborn Screening for Inborn Errors of Metabolism, Congenital Adrenal Hyperplasia (CAH), Congenital Hypothyroidism, Glucose-6-Phosphate Dehydrogenase Deficiency

Methylation test for Prader Willi Syndrome and Angelman Syndrome

Fetal Autopsy

DNA Banking of Rare Disorders

Prenatal Diagnosis on Chorionic Villus Sample or Amniotic Fluid

Pre-Implantation Genetic Diagnosis for Single Gene Disorders and Chromosomal Disorders

Pre-Implantation Genetic Screening for In - Vitro Fertilization Cases

Telephone consultation available