Clinical and research tests for 604385 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TGFBR2 Gene Colorectal cancer, hereditary nonpolyposis type 6 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
SCN11A Gene Episodic pain syndrome type 3, familial NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Distal Weakness Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	211	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Peripheral Neuropathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Sensory Neuropathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	25	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SCN11A - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Episodic pain syndrome, familial, 3, 615552, Autosomal dominant; FEPS3 (Familial episodic pain syndrome) (SCN11A gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Neuropathy, hereditary sensory and autonomic, type VII, 615548, Autosomal dominant; HSAN7 (Hereditary sensory and autonomic neuropathy type 7) (SCN11A gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	480	254	C Sequence analysis of the entire coding region
Invitae Hereditary Sensory and Autonomic Neuropathy Panel Invitae United States	25	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neuropathies Panel Invitae United States	201	96	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Sensory and Autonomic Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	20	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth (CMT) - Comprehensive Panel PreventionGenetics, part of Exact Sciences United States	91	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Episodic Pain Syndrome Panel PreventionGenetics, part of Exact Sciences United States	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Familial Episodic Pain Type 3 (FEPS3) Syndrome, Hereditary Sensory and Autonomic Neuropathy Type VII (HSAN7), and other Pain-Related Disorders via the SCN11A Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
SCN11A Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Neuromuscular Disorders Panel CGC Genetics Unilabs Portugal	17	367	C Sequence analysis of the entire coding region
Familial episodic pain syndrome type 3 , Hereditary type 7 hereditary autonomic and sensory neuropathy (sequence analysis of SCN11A gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Neuropathy Panel Mendelics Brazil	1	104	C Sequence analysis of the entire coding region
HEREDITARY SENSORY-AUTONOMIC NEUROPATHY EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	30	E Sequence analysis of select exons

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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.