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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
CTDP1 - (c.863+389C>T) mutation detection Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands | 1 | 1 |
|
Congenital Cataracts NGS Panel Fulgent Genetics United States | 106 | 56 |
|
Congenital Cataracts, Facial Dysmorphism, And Neuropathy (CTDP1 Single Gene Test) Fulgent Genetics United States | 1 | 1 |
|
Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes Reference Laboratory Genetics Spain | 40 | 40 |
|
CONGENITAL CATARACTS - FACIAL DYSMORPHISM - NEUROPATHY Laboratorio de Genetica Clinica SL Spain | 1 | 1 |
|
Eye diseases comprehensive panel Asper Biogene Asper Biogene LLC Estonia | 367 | 291 |
|
Asper Biogene Asper Biogene LLC Estonia | 45 | 44 |
|
Rhabdomyolysis & Metabolic Myopathies NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 46 | 47 |
|
Invitae United States | 46 | 32 |
|
CTDP1 Gene Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States | 1 | 1 |
|
180K CGH+SNP microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States | 231 | 1 |
|
Fulgent Genetics United States | 1 | 1 |
|
Fulgent Genetics United States | 5127 | 4672 |
|
Comprehensive Eye Disorders NGS Panel Fulgent Genetics United States | 1018 | 459 |
|
Congenital Cataracts, Facial Dysmorphism, and Neuropathy MGZ Medical Genetics Center Germany | 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.