Clinical and research tests for 167200 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Pachyonychia congenita 1, 167200, Autosomal dominant; PC1 (Pachyonychia congenita) (KRT16 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 Epidermolysis Bullosa and Palmoplantar Keratoderma Panel Invitae United States	95	45	D Deletion/duplication analysis
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
Palmoplantar Keratoderma Asper Biogene Asper Biogene LLC Estonia	18	11	C Sequence analysis of the entire coding region
KRT16 Institute for Human Genetics University Medical Center Freiburg Germany	2	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
Pachyonychia Congenita , Panel Massive Sequencing (NGS) KRT6A, KRT6B, KRT16, KRT17 Genes Reference Laboratory Genetics Spain	4	4	C Sequence analysis of the entire coding region
Pachyonychia Congenita Type 1, Sequencing KRT16 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Single gene testing KRT16 CeGaT GmbH Germany	2	1	C Sequence analysis of the entire coding region
Pachyonychia congenita type 1 Bioarray Spain	1	1	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
KRT16 Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PKP2 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	5127	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Preimplantation genetic screening by microarray Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	62	25	D Deletion/duplication analysis
SNP Microarray Analysis (Chromosomal Microarray) Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital United States	452	1	D Deletion/duplication analysis H Detection of homozygosity
5-Cell Confirmation Chromosome Analysis, Tissue Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital United States	323	1	K Karyotyping
5-Cell Confirmation Chromosome Analysis, Amniotic Fluid Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital United States	323	1	K Karyotyping
5-Cell Confirmation Chromosome Analysis, Peripheral Blood Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital United States	323	1	K Karyotyping

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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.