Clinical and research tests for C2678045 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
High-Resolution Rapid Microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
Rapid microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
Invitae Limb and Digital Malformations Panel Invitae United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Disorders of Sex Development Panel Invitae United States	88	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
STAR syndrome, 300707, X-linked dominant (Syndactyly-telecanthus-anogenital and renal malformations syndrome) (FAM58A 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
TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS; STAR (Syndactyly-telecanthus-anogenital and renal malformations syndrome) (CCNQ 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
Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	220	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ambiguous Genitalia Panel PreventionGenetics, part of Exact Sciences United States	128	85	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
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel PreventionGenetics, part of Exact Sciences United States	82	77	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
STAR syndrome (sequence analysis of FAM58A gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Ciliopathy panel. NGS panel of 99 genes. Genologica Medica Spain	152	97	C Sequence analysis of the entire coding region
Brachydactyly / syndactyly panel. NGS panel of 20 genes. Genologica Medica Spain	55	20	C Sequence analysis of the entire coding region
Renal malformation panel. NGS panel of 22 genes. Genologica Medica Spain	44	22	C Sequence analysis of the entire coding region
Abnormal/Ambiguous Genitalia Panel Genetic Services Laboratory University of Chicago United States	81	92	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Selected Genetic Syndromes with skeletal involvement Panel CeGaT GmbH Germany	36	42	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.