Clinical and research tests for 612379 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Congenital disorder of glycosylation, type Iq, 612379, Autosomal recessive; CDG1Q (Al-Gazali-Dattani syndrome) (SRD5A3 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
Congenital disorder of glycosylation, type Iq, 612379, Autosomal recessive; CDG1Q (Al-Gazali-Dattani syndrome) (SRD5A3 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
TBC1D23 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Invitae Supplemental Metabolic Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Brain Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States	247	161	D Deletion/duplication analysis
Comprehensive Cataracts Panel PreventionGenetics, part of Exact Sciences United States	161	174	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Disorders of Glycosylation (CDG) Panel PreventionGenetics, part of Exact Sciences United States	56	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly and related disorders Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	46	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly and related disorders Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	46	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lissencephaly and related disorders NGS test HNL Genomics Connective Tissue Gene Tests United States	46	42	C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Congenital Disorders of Glycosylation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	203	152	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Disorders of Glycosylation Panel Baylor Genetics United States	29	27	E Sequence analysis of select exons
Comprehensive Brain Malformation Panel Genetic Services Laboratory University of Chicago United States	37	131	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SRD5A3 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Congenital disorder of glycosylation type Iq (sequence analysis of SRD5A3 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
Panel of congenital disorders of glycosylation. NGS panel of 47 genes. Genologica Medica Spain	55	47	C Sequence analysis of the entire coding region
5α-Reductase Deficiency Type 2 Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey	1	1	C Sequence analysis of the entire coding region

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