Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Benign Familial Hematuria, Massive Sequencing COL4A3, COL4A4 Genes Reference Laboratory Genetics Spain | 2 | 2 |
|
Septo-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes Reference Laboratory Genetics Spain | 11 | 9 |
|
Reference Laboratory Genetics Spain | 6 | 6 |
|
Periodic Fever and Related Syndromes, Panel Massive Sequencing (NGS) 7 Genes Reference Laboratory Genetics Spain | 9 | 7 |
|
Refsum Disease , Panel Massive Sequencing (NGS) 5 Genes Reference Laboratory Genetics Spain | 7 | 4 |
|
Familial Prostate Cancer , Panel Massive Sequencing (NGS) 11 Genes Reference Laboratory Genetics Spain | 8 | 11 |
|
Renal Tubular Acidosis, Panel Massive Sequencing (NGS) ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4 Genes Reference Laboratory Genetics Spain | 6 | 5 |
|
Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Reference Laboratory Genetics Spain | 31 | 31 |
|
Fraser Syndrome, Panel Massive Sequencing (NGS) FRAS1,FREM2,GRIP1 Genes Reference Laboratory Genetics Spain | 3 | 3 |
|
Congenital Adrenal Hyperplasia , Panel Massive Sequencing (NGS) 6 Genes Reference Laboratory Genetics Spain | 6 | 6 |
|
Occipital Horn Syndrome , Massive Sequencing (NGS) ATP7A Gene Reference Laboratory Genetics Spain | 1 | 1 |
|
Reference Laboratory Genetics Spain | 8 | 9 |
|
Achondrogenesis/Hypochondrogenesis , Panel Massive Sequencing (NGS) 5 Genes Reference Laboratory Genetics Spain | 5 | 5 |
|
Spinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes Reference Laboratory Genetics Spain | 20 | 19 |
|
Neuroblastoma , Panel Massive Sequencing (NGS) 4 Genes Reference Laboratory Genetics Spain | 3 | 4 |
|
3M Syndrome , Panel Massive Sequencing (NGS) CUL7, OBSL1, CCDC8 Genes Reference Laboratory Genetics Spain | 3 | 3 |
|
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Reference Laboratory Genetics Spain | 108 | 82 |
|
Complement System (Genetic Study) , Panel Massive Sequencing (NGS) 12 Genes Reference Laboratory Genetics Spain | 12 | 12 |
|
Hydrocephalus , Panel Massive Sequencing (NGS) L1CAM, CCDC88C, MPDZ Genes Reference Laboratory Genetics Spain | 3 | 3 |
|
Autosomal Recessive Mental Retardation, Panel Massive Sequencing (NGS) 32 Genes Reference Laboratory Genetics Spain | 32 | 32 |
|
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.