Clinical and research tests for C0796200 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 16 of 16

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ZC4H2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Wieacker-Wolff syndrome, 314580, X-linked recessive; WRWF (Intellectual disability-developmental delay-contractures syndrome) (ZC4H2 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
Wieacker-Wolff syndrome, 314580, X-linked recessive; WRWF (Intellectual disability-developmental delay-contractures syndrome) (ZC4H2 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
Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics, part of Exact Sciences United States	170	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Wieacker-Wolff Syndrome via the ZC4H2 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
X-Linked Intellectual Disability Panel PreventionGenetics, part of Exact Sciences United States	191	141	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain	135	69	C Sequence analysis of the entire coding region
X-linked intellectual disability panel. 99-gene NGS panel. Genologica Medica Spain	143	99	C Sequence analysis of the entire coding region
Mental retardation, X-linked syndromic: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	33	31	C Sequence analysis of the entire coding region
ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH INTELLECTUAL DISABILITY (X-LINKED) Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Congenital Contractures NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	81	57	C Sequence analysis of the entire coding region
Wieacker-Wolff Syndrome , Sequencing ZC4H2 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Single gene testing ZC4H2 CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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