Clinical and research tests for C1858726 - Genetic Testing Registry (GTR)

Results: 1 to 9 of 9

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Cataracts Panel PreventionGenetics United States	157	171	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics United States	106	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth - Comprehensive Panel PreventionGenetics United States	53	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth - Demyelinating Neuropathy Panel PreventionGenetics United States	34	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Cataracts Panel PreventionGenetics United States	44	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) Syndrome via the CTDP1 Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cataracts, facial dysmorphism and neuropathy (CCFDN) syndrome, Congenital : CTDP1 gene mutation analysis (IVS6+389 C>T) GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spain	1	1	T Targeted variant analysis

Results: 1 to 9 of 9

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.

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Results: 1 to 9 of 9

Results: 1 to 9 of 9