Clinical and research tests for C3714580 - Genetic Testing Registry (GTR)

Page 2 of 4

Results: 21 to 40 of 63

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Comprehensive Myopathy Panel Invitae United States	143	70	D Deletion/duplication analysis
Invitae Congenital Myopathy Panel Invitae United States	58	36	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States	353	208	D Deletion/duplication analysis
CACNA1S MLPA Institute for Human Genetics University Medical Center Freiburg Germany	3	1	D Deletion/duplication analysis
Periodic paralysis panel. Panel NGS genes: CACNA1S, CLCN1, KCNJ2, SCN4A. Genologica Medica Spain	13	4	C Sequence analysis of the entire coding region
Preventive 59 Genologica Medica Spain	172	59	C Sequence analysis of the entire coding region
Hypokalemic periodic paralysis, type 1 Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	C Sequence analysis of the entire coding region
Periodic Paralysis Panel GeneDx United States	3	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypokalemic and Hyperkalemic Periodic Paralysis Disorders (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	12	7	C Sequence analysis of the entire coding region
Myotonia Panel GeneDx United States	12	10	D Deletion/duplication analysis E Sequence analysis of select exons
Malignant Hyperthermia Asper Biogene Asper Biogene LLC Estonia	7	3	C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Childhood Epilepsy NGS Panel Fulgent Genetics United States	354	209	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Paramyotonia Congenita (SCN4A Single Gene Test) Fulgent Genetics United States	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Myopathy NGS Panel Fulgent Genetics United States	186	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Malignant Hyperthermia Susceptibility NGS Panel Fulgent Genetics United States	6	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ACMG Secondary Findings (Medically Actionable Genes, Including Cardio and Cancer) NGS Panel Fulgent Genetics United States	177	59	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypokalemic and Hyperkalemic Periodic Paralysis NGS Panel Fulgent Genetics United States	14	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nondystrophic Myotonia NGS Panel Fulgent Genetics United States	35	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Reference Laboratory Genetics Spain	60	44	C Sequence analysis of the entire coding region

<< First < Prev

Page 2 of 4

Next >Last >>

Results: 21 to 40 of 63

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.

Filters

Test type

Test purpose

Test method

Molecular Genetics

Test service

Laboratory certification

Specimen type

Laboratory location

Other countries

Results: 21 to 40 of 63

Results: 21 to 40 of 63