Clinical and research tests for 608248 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Branchiootorenal syndrome 2 (sequence analysis of SIX5 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
KRT74 Gene Hypotrichosis type 3 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
KRT74 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	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
Hypotrichosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	10	10	C Sequence analysis of the entire coding region T Targeted variant analysis
Hypotrichosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	10	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectodermal dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	8	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypotrichosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	10	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ectodermal dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	8	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectodermal dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	8	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypotrichosis 3, 613981; HYPT3 (Hypotrichosis simplex of the scalp) (KRT74 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
Woolly hair, autosomal dominant, 194300, Autosomal dominant; ADWH (Woolly hair) (KRT74 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
Ectodermal dysplasia 7, hair/nail type, 614929, Autosomal recessive; ECTD7 (Pure hair and nail ectodermal dysplasia) (KRT74 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
Ectodermal dysplasia 7, hair/nail type, 614929, Autosomal recessive; ECTD7 (Pure hair and nail ectodermal dysplasia) (KRT74 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
Ectodermal dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	8	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypotrichosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	10	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypotrichosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	10	10	C Sequence analysis of the entire coding region T Targeted variant analysis
Ectodermal dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	8	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectodermal dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	8	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypotrichosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	10	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.