Clinical and research tests for 607606 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
WDR27 Gene WDR27-related brain disorders NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
KRT9 Gene Epidermolytic palmoplantar keratoderma NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
KRT9 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoSkin Panel Centogene AG - the Rare Disease Company Germany	157	151	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Congenital Ichthyosis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	77	45	D Deletion/duplication analysis
Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel Labcorp Genetics (formerly Invitae) LabCorp United States	95	45	D Deletion/duplication analysis
Palmoplantar keratoderma, epidermolytic, 144200, Autosomal dominant (Epidermolytic palmoplantar keratoderma) (KRT9 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
Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	124	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Palmoplantar Keratoderma, Epidermolytic via the KRT9 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Ichthyosis and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	20	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dermatology Panel CGC Genetics Unilabs Portugal	1	277	C Sequence analysis of the entire coding region
Palmoplantar keratoderma, epidermolytic (sequence analysis of KRT9 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Congenital Ichthyosis Slice GeneDx United States	1	49	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ICHTHYOSIFORM ERYTHRODERMA CONGENITAL EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	60	E Sequence analysis of select exons
ICTHYOSIS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	60	E Sequence analysis of select exons
ECTODERMAL DYSPLASIA EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	110	E Sequence analysis of select exons
Ichthyosis panel. 31-gene NGS panel. Genologica Medica Spain	58	31	C Sequence analysis of the entire coding region
Dermatological. Full panel Genologica Medica Spain	122	68	C Sequence analysis of the entire coding region
Palmoplantar keratoderma panel. 25-gene NGS panel. Genologica Medica Spain	62	25	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region

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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.