Clinical and research tests for 192430 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Velocardiofacial syndrome, 192430, Autosomal dominant (22q11.2 deletion syndrome) (FISH) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	F Fluorescence in situ hybridization (FISH)
Velocardiofacial syndrome, 192430, Autosomal dominant (22q11.2 deletion syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Velocardiofacial syndrome, 192430, Autosomal dominant (22q11.2 deletion syndrome) (Prenatal) (FISH) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	F Fluorescence in situ hybridization (FISH)
Velocardiofacial syndrome, 192430, Autosomal dominant (22q11.2 deletion syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
High-Resolution Rapid Microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
aCGH study for cryptic quantitative genomic imbalances Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India	90	24	D Deletion/duplication analysis
Rapid microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
TBX1 - MLPA Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
Invitae Hypoparathyroidism Panel Labcorp Genetics (formerly Invitae) LabCorp United States	41	18	D Deletion/duplication analysis
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
VACTERL Association and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	123	84	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Nonsyndromic Congenital Heart Disease Panel PreventionGenetics, part of Exact Sciences United States	54	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
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
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Labcorp Genetics (formerly Invitae) LabCorp United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cleft Lip/Cleft Palate Panel PreventionGenetics, part of Exact Sciences United States	177	161	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	362	227	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CustomNext-Cardio® Ambry Genetics United States	236	167	D Deletion/duplication analysis 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.