Carrier Screening Packages

KIBs provides the following carrier screening packages:

1. SINGLE GENE TESTS

We provide tests for single genes including sickle cell disease, A-Thalassemia, B-Haemoglobinopathies, Cystic Fibrosis, Duchenne Muscular Dystrophy, Fragile X , and Spinal Muscular Atrophy.

2. GUIDELINES BASED PANEL TEST

This panel detects 19 genetic diseases recommended by The American College of Medical Genetics (ACMG) and The American College of Obstetricians and Gynecologists (ACOG) due to their high incidence and severity. Diseases tested for include A-Thalassemia, B-Haemoglobinopathies, Cystic Fibrosis, Duchenne Muscular Dystrophy, Fragile X, Spinal Muscular Atrophy, Phenylketonuria, Fanconi Anemia Group C, Tay-Sachs Bloom Syndrome, Canavan Disease, Familial Dysautonomia, Galactosemia, Gaucher Disease, Medium Chain Acyl-CoA Dehydrogenase Deficiency, Mucolipidosis, Type IV, Niemann-Pick Disease, Types A/B, Phenylketonurea and Smith-Lemli-Opitz Syndrome.

3. COMPREHENSIVE PANEL TEST

Single panel for 229 diseases that have moderate to severe, well-defined phenotype and high cumulative frequency. The Comprehensive panel includes all diseases of the Guidelines Based panel, and covers a wide range of metabolic, cardiovascular, hematological, muscular, immunological, neurological and pulmonary diseases amongst others.