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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
SEPTIN9 Gene, Full Gene Analysis Mayo Clinic Laboratories Mayo Clinic United States | 1 | 1 |
|
SEPTIN9 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 480 | 254 |
|
SEPT9 Deletion/Duplication Analysis Baylor Genetics United States | 1 | 1 |
|
SEPT9 Targeted Mutation Analysis Baylor Genetics United States | 1 | 1 |
|
Baylor Genetics United States | 842 | 637 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
CGC Genetics Unilabs Portugal | 17 | 367 |
|
Clefting (WES based NGS panel of 231 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 231 |
|
Amyotrophy hereditary neuralgic (deletion/duplication on SEPT9 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Amyotrophy hereditary neuralgic (sequence analysis of SEPT9 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
HEREDITARY SENSORY-AUTONOMIC NEUROPATHY EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 30 |
|
CHARCOT-MARIE-TOOTH EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 151 |
|
MUSCULAR DISORDERS- EMCG GLOBAL EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 416 |
|
MUSCULAR DYSTROPHIES/ MYOPATHIES PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 250 |
|
Caris Life Sciences United States | 1 | 591 |
|
Codex Genetics Limited Hong Kong | 1 | 490 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Xpanded Adult Movement Disorders Panel GeneDx United States | 5 | 473 |
|
ARUP Laboratories, Molecular Oncology ARUP Laboratories United States | 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.