Clinical and research tests for 614888 - Genetic Testing Registry (GTR)

Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
AAGAB Gene Keratoderma, palmoplantar, punctate type 1A NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel Labcorp Genetics (formerly Invitae) LabCorp United States	95	45	D Deletion/duplication analysis
Keratoderma, palmoplantar, punctate type IA, 148600, Autosomal dominant; PPKP1A (Punctate palmoplantar keratoderma type 1) (AAGAB 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
Dermatology Panel CGC Genetics Unilabs Portugal	1	277	C Sequence analysis of the entire coding region
Punctate palmoplantar keratoderma type I (sequence analysis of AAGAB gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
PACHYONYCHIA CONGENITA EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	7	E Sequence analysis of select exons
Congenital pachyonychia panel. 7-gene NGS panel. Genologica Medica Spain	10	7	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
Prenatal Known Familial Mutation GeneDx United States	1	1716	D Deletion/duplication analysis T Targeted variant analysis
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States	1	1718	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Palmoplantar Keratoderma Asper Biogene Asper Biogene LLC Estonia	18	11	C Sequence analysis of the entire coding region
AAGAB Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Pachyonychia Congenita NGS Panel Fulgent Genetics United States	22	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Palmoplantar Keratoderma Panel Blueprint Genetics Finland	2	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pachyonychia Congenita Panel Blueprint Genetics Finland	3	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
AAGAB Single Gene Fulgent Genetics United States	9	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ichthyoses and related disorders of cornification Panel CeGaT GmbH Germany	42	65	C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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.

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Results: 1 to 19 of 19

Results: 1 to 19 of 19