Clinical and research tests for C0878683 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Septo-optic Dysplasia Spectrum Panel PreventionGenetics, part of Exact Sciences United States	11	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Differences of Sex Development (DSD) Panel PreventionGenetics, part of Exact Sciences United States	149	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Differences of Sex Development (DSD) and Infertility Panel PreventionGenetics, part of Exact Sciences United States	223	238	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Male Infertility Panel PreventionGenetics, part of Exact Sciences United States	128	139	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Female Infertility Panel PreventionGenetics, part of Exact Sciences United States	96	105	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Combined Pituitary Hormone Deficiency-2 (CPHD2) via the PROP1 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
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
Congenital Hypothyroidism and Thyroid Hormone Resistance Panel PreventionGenetics, part of Exact Sciences United States	32	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypothyroidism and thyroid hormone resistance panel. NGS panel of 21 genes. Genologica Medica Spain	42	21	C Sequence analysis of the entire coding region
PROP1 deletion/duplication analysis Duzen Laboratories Duzen BBAGUAS Turkey	1	1	D Deletion/duplication analysis
PROP1 GENETİK TEST Duzen Laboratories Duzen BBAGUAS Turkey	1	1	C Sequence analysis of the entire coding region
Pituitary hormone deficiency, combined, 2 Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Combined Pituitary Hormone Deficiency Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	12	10	C Sequence analysis of the entire coding region
Comprehensive Short Stature Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	82	60	C Sequence analysis of the entire coding region
Growth Hormone Deficiency Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	15	11	C Sequence analysis of the entire coding region
Horizon 137 Male Natera, Inc. United States	130	133	E Sequence analysis of select exons C Sequence analysis of the entire coding region
Horizon 274 Male Natera, Inc. United States	244	254	E Sequence analysis of select exons C Sequence analysis of the entire coding region
PROP1 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM) Baylor Genetics United States	1	1	E Sequence analysis of select exons
PROP1 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	T Targeted variant analysis
Female Infertility Asper Biogene Asper Biogene LLC Estonia	85	64	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.