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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Hydrocephalus , Panel Massive Sequencing (NGS) L1CAM, CCDC88C, MPDZ Genes Reference Laboratory Genetics Spain | 3 | 3 |
|
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Reference Laboratory Genetics Spain | 85 | 77 |
|
Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes Reference Laboratory Genetics Spain | 24 | 22 |
|
Hirschsprung Disease, Panel Massive Sequencing (NGS) 6 Genes Reference Laboratory Genetics Spain | 6 | 6 |
|
X-Linked Hydrocephalus , Deletions-Duplications (MLPA) L1CAM Gene Reference Laboratory Genetics Spain | 1 | 1 |
|
X-Linked Hydrocephalus , Sequencing L1CAM Gene Reference Laboratory Genetics Spain | 1 | 1 |
|
HSP, Supplemental Sporadic Evaluation Athena Diagnostics United States | 24 | 22 |
|
Athena Diagnostics United States | 40 | 24 |
|
Athena Diagnostics United States | 5 | 2 |
|
X-linked hydrocephalus with stenosis of aqueduct of Sylvius Bioarray Spain | 1 | 1 |
|
CeGaT GmbH Germany | 3 | 1 |
|
MVZ Dr. Eberhard & Partner Dortmund Germany | 3 | 1 |
|
Fulgent Genetics United States | 3 | 1 |
|
Fulgent Genetics United States | 5129 | 4672 |
|
XLID (X-Linked Intellectual Disability) NGS Panel Fulgent Genetics United States | 162 | 117 |
|
Fulgent Genetics United States | 53 | 27 |
|
Intellectual Disability NGS Panel Fulgent Genetics United States | 1058 | 554 |
|
Fulgent Genetics United States | 170 | 106 |
|
MedGene Slovakia | 1 | 1 |
|
Praxis fuer Humangenetik Wien Austria | 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.