Clinical and research tests for 6335 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 20 of 150

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SCN9A Gene Generalized epilepsy with febrile seizures plus type 7 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
SCN9A Gene Insensitivity to pain, channelopathy-associated NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
SCN9A Gene Neuropathy, hereditary sensory and autonomic type 2 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
SCN9A Gene Dravet syndrome, modifier of NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
SCN9A Gene Erythermalgia, primary 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
GenepoweRx_Diabetes Care GenepoweRx Uppaluri K&H Personalized Medicine Clinic India	17	41	D Deletion/duplication analysis H Detection of homozygosity S Mutation scanning of the entire coding region T Targeted variant analysis
SCN9A - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Epilepsy, generalized, with febrile seizures plus, type 7, 613863, Autosomal dominant (Generalized epilepsy with febrile seizures-plus) (SCN9A 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
Erythermalgia, primary, 133020, Autosomal dominant (Sodium channelopathy-related small fiber neuropathy) (SCN9A 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
Febrile seizures, familial, 3B, 613863, Autosomal dominant; GEFSP7 (Generalized epilepsy with febrile seizures-plus) (SCN9A 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
Insensitivity to pain, congenital, 243000, Autosomal recessive (Channelopathy-associated congenital insensitivity to pain) (SCN9A gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Insensitivity to pain, congenital, 243000, Autosomal recessive (Channelopathy-associated congenital insensitivity to pain) (SCN9A 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
Small fiber neuropathy, 133020 (Sodium channelopathy-related small fiber neuropathy) (SCN9A 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

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