Clinical and research tests for 603684 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 16 of 16

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Comprehensive Lipidemia Panel Invitae United States	33	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dyslipidemia panel Genetic Services Laboratory University of Chicago United States	17	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LIPG Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	9	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LIPG Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KLHL7 - 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
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Cold-induced sweating syndrome 3, 617055; CISS3 (Cold-induced sweating syndrome) (KLHL7 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
Cold-induced sweating syndrome 3, 617055; CISS3 (Cold-induced sweating syndrome) (KLHL7 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
Invitae Inherited Retinal Disorders Panel Invitae United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Late-Onset Autosomal Dominant Retinitis Pigmentosa 42 (RP42) and Crisponi/Cold-Induced Sweating Syndrome Type 1(CISS1)-Like Phenotype Associated with Early-Onset Autosomal Recessive Retinitis Pigmentosa via the KLHL7 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
Retinitis pigmentosa panel Genologica Medica Spain	164	108	C Sequence analysis of the entire coding region
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain	420	257	C Sequence analysis of the entire coding region
KLHL7 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Cold-induced sweating syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	3	3	C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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.