Clinical and research tests for 609239 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Pyridoxamine 5'-phosphate oxidase deficiency (deletion/duplication analysis on PNPO gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis
LPAR6 Gene Hypotrichosis type 8 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
LPAR6 - 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
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
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 8, 278150, Autosomal recessive; HYPT8 (Woolly hair) (LPAR6 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 recessive 1, with or without hypotrichosis, 278150, Autosomal recessive (Woolly hair) (LPAR6 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
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
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
Invitae Ectodermal Dysplasia and Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	148	73	D Deletion/duplication analysis
Ectodermal dysplasia (WES based NGS panel of 42 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	42	C Sequence analysis of the entire coding region
Hypotrichosis (WES based NGS panel of 10 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	10	C Sequence analysis of the entire coding region
Dermatology Panel CGC Genetics Unilabs Portugal	1	277	C Sequence analysis of the entire coding region
Hypotrichosis simplex, type 8 (sequence analysis of LPAR6 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
HYPOTRICOSIS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	9	E Sequence analysis of select exons
ECTODERMAL DYSPLASIA EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	110	E Sequence analysis of select exons
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.