Molecular Genetics Laboratory – Test Services Available

Disease Tests

This panel determines an individual’s disease and carrier status for ten inherited diseases – Bloom syndrome, Canavan disease, Familial dysautonomia, Fanconi anemia, Gaucher disease, Glycogen storage disease, Maple syrup urine disease, Mucolipidosis, Niemann-Pick disease and Tay-Sachs disease.
Ashkenazi Jewish Mutation Panel (10 common disorders, without Cystic Fibrosis) Test Kit
Ashkenazi Jewish Mutation Panel (10 common disorders, without Cystic Fibrosis) Test
This panel determines an individual’s disease and carrier status for eleven inherited diseases – Bloom syndrome, Canavan disease, Cystic Fibrosis, Familial dysautonomia, Fanconi anemia, Gaucher disease, Glycogen storage disease, Maple syrup urine disease, Mucolipidosis, Niemann-Pick disease and Tay-Sachs disease.
Ashkenazi Jewish Mutation Panel (11 common disorders, including Cystic Fibrosis) Test Kit
Ashkenazi Jewish Mutation Panel (11 common disorders, including Cystic Fibrosis) Test
This DNA test identifies the common deletions and nucleotide variants seen in the HBB gene. This test will indicate whether you or your children are at risk of beta thalassemia.
Beta Thalassemia (HBB Gene Sequencing) DNA Test Kit
Beta Thalassemia (HBB Gene Sequencing) DNA Test
This DNA test will determine if you carry a mutation in the BLM gene which causes Bloom syndrome.
Bloom Syndrome DNA Test Kit
Bloom Syndrome DNA Test
This DNA test will determine if you carry any of the four disease-causing mutations in the ASPA gene which cause Canavan Disease.
Canavan Disease DNA Test Kit
Canavan Disease DNA Test
This DNA test identifies 39 common disease-causing mutations in the CFTR gene. This testing is useful for not only confirming a cystic fibrosis diagnosis, but also for identifying carriers of a CFTR mutation, who are at risk of having an affected child.
Cystic Fibrosis Mutation Analysis (39 Mutation Panel) DNA Test Kit
Cystic Fibrosis Mutation Analysis (39 Mutation Panel) DNA Test
This DNA test will determine if you carry one of the disease-causing mutations in the IKBKAP gene which cause Familial Dysautonomia.
Familial Dysautonomia DNA Test Kit
Familial Dysautonomia DNA Test
This mutation analysis will determine if you carry one of the disease-causing mutations in the FANCC gene which disrupt the Fanconi Anemia pathway and cause Fanconi Anemia Group C.
Fanconi Anemia Group C DNA Test Kit
Fanconi Anemia Group C DNA Test
This DNA analysis examines the length of the repeat region in the FMR1 gene. The genetic test determines if an individual has fragile X syndrome or is at risk of having an affected child.
Fragile X Syndrome (FMR1) DNA Test Kit
Fragile X Syndrome (FMR1) DNA Test
This mutation analysis will determine if you carry any of the eight common disease-causing mutations in the GBA gene which cause the varying types of Gaucher disease.
Gaucher Disease DNA Test Kit
Gaucher Disease DNA Test
This mutation analysis will determine if you carry one of the disease-causing mutations in the G6PC gene which cause glycogen storage disease type 1A.
Glycogen Storage Disease Type IA DNA Test Kit
Glycogen Storage Disease Type IA DNA Test
This mutation analysis will determine if you carry any of the four disease-causing mutations in the BCKDHA and BCKDHB genes which cause maple syrup urine disease.
Maple Syrup Urine Disease Type 1A and 1B DNA Test Kit
Maple Syrup Urine Disease Type 1A and 1B DNA Test
This DNA test will determine if you carry one of the disease-causing mutations in the MCOLN1 gene which cause mucolipidosis type IV.
Mucolipidosis Type IV DNA Test Kit
Mucolipidosis Type IV DNA Test
This mutation analysis will determine if you carry any of the four disease-causing mutations in the SMPD1 gene which cause Niemann-Pick disease.
Niemann-Pick Type A and B DNA Test Kit
Niemann-Pick Type A and B DNA Test
This DNA test will determine if you have any mutations in your HBB gene that result in the production of abnormal hemoglobins (HbS, HbC and HbE) and differing sickle cell disorders.
Sickle Cell Disease (HbC, HbE and HbS) DNA Test Kit
Sickle Cell Disease (HbC, HbE and HbS) DNA Test
This mutation analysis will determine if you carry any of the five disease-causing mutations in the HEXA gene which cause Tay-Sachs disease and other hexosaminidase A deficiencies.
Tay-Sachs Disease DNA Test Kit
Tay-Sachs Disease DNA Test