Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
PSPH Gene Phosphoserine phosphatase deficiency NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
PSPH - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
|
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States | 351 | 249 |
|
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States | 638 | 419 |
|
Molecular Genetics Laboratory London Health Sciences Centre Canada | 1 | 166 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 625 |
|
Invitae Treatable Neurometabolic Disorders Panel Invitae United States | 257 | 191 |
|
Invitae Neurotransmitter Disorders Panel Invitae United States | 52 | 44 |
|
Invitae United States | 466 | 297 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 10 | 930 |
|
CGC Genetics Unilabs Portugal | 1 | 832 |
|
CGC Genetics Unilabs Portugal | 1 | 1293 |
|
Phosphoserine phosphatase deficiency (sequence analysis of PSPH gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
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.