Clinical and research tests for CN032444 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 17 of 17

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Invitae Disorders of Sex Development Panel Invitae United States	88	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Opitz GBBB syndrome, type II, 145410, Autosomal dominant; GBBB2 (Opitz G/BBB syndrome) (SPECC1L 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
Opitz GBBB syndrome, type II, 145410, Autosomal dominant; GBBB2 (Opitz G/BBB syndrome) (SPECC1L 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
Cleft Lip/Cleft Palate Panel PreventionGenetics, part of Exact Sciences United States	177	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypospadias Panel PreventionGenetics, part of Exact Sciences United States	156	73	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
Opitz G/BBB Syndrome Panel PreventionGenetics, part of Exact Sciences United States	7	7	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
22q11.2 Deletion/Duplication Analysis Children's Hospital of Los Angeles, Center for Personalized Medicine United States	5	1	D Deletion/duplication analysis
Opitz GBBB syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region
Opitz G/BBB Syndrome Type 2 , Sequencing SPECC1L Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
qGenEx Craniofacial Anomalies Quantitative Genomic Medicine Laboratories, SL Spain	135	136	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
SPECC1L MGZ Medical Genetics Center Germany	1	1	C Sequence analysis of the entire coding region
22q11.2 Deletion Syndrome Warren G. Sanger Human Genetics Laboratory Nebraska Medicine (formerly a UNMC Lab) United States	6	1	I FISH-interphase M FISH-metaphase

Results: 1 to 17 of 17

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