RareMap
Understand hidden genetic factors and get comprehensive insights into rare inherited conditions
Alpha Thalassemia
Sanger sequencing-based test for Alpha Thalassemia which analyzes HBA1 and HBA2 genes.
Duchenne Muscular Dystrophy
Test for detection of deletions/duplications in the dystrophin gene
Fatty Acid Oxidation Disorders
WES-based test to identify genetic variants that might affect the body's ability to break down fatty acids for energy, potentially leading to energy deficits and metabolic crises.
Huntingtons Disease
Huntington’s disease is a genetic condition that affects the cells in your brain. It’s a progressive condition that gets worse over time.
Lysosomal Storage Disorders
Lysosomal storage diseases (LSDs) are inborn errors of metabolism characterized by the accumulation of substrates in excess in various organs' cells due to the defective functioning of lysosomes. This test identifies mutations in genes responsible for enzyme deficiencies, leading to the accumulation of harmful substances in cells and affecting various organs and tissues.
Pro-thrombin and Factor V Leiden
Sanger based test for detecting mutations in Prothrombin & Factor V
SCID
WES-based genetic test to identify mutations in genes critical for immune system function, resulting in a severely weakened immune response and increased vulnerability to infections.
Spinal Muscular Atrophy
Test for detection of deletions/ duplications in the SMN1 & 2 gene
Spinocerebellar Ataxia(SCA)
Comprehensive genetic testing options using multiple techniques for SCA to help with accurate diagnosis and personalized care to address any future coordination or movement diffuculties.
Urea Cycle Disorders
Whole Exome based test for urea cycle disorders to identify variants that could lead to enzyme deficiencies and toxic ammonia buildup.