Clinical and research tests for 611722 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY, 611722, Autosomal recessive (Krabbe disease) (PSAP 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
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY, 611722, Autosomal recessive (Krabbe disease) (PSAP 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
Myoclonic dystonia 11 (DYT11, sequence analysis of SGCE gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Lysosomal Storage Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	76	50	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Galactocerebrosidase deficiency (Krabbe) Lysosomal Diseases Testing Laboratory Thomas Jefferson University United States	5	1	E Enzyme assay
PSAP - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis 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
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States	242	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leukodystrophy and Leukoencephalopathy, Adult Onset Panel PreventionGenetics, part of Exact Sciences United States	46	37	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	254	166	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Lysosomal Storage Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	87	57	D Deletion/duplication analysis
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	327	300	C Sequence analysis of the entire coding region
Invitae Epilepsy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	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 lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes. Genologica Medica Spain	175	102	C Sequence analysis of the entire coding region
Leukodystrophy and leukoencephalopathy panel. NGS panel of 74 genes. Genologica Medica Spain	96	74	C Sequence analysis of the entire coding region
Complete epilepsy panel. NGS panel of 283 genes. Genologica Medica Spain	409	283	C Sequence analysis of the entire coding region
Lysosomal Storage Diseases Gene Panel Duzen Laboratories Duzen BBAGUAS Turkey	50	43	C Sequence analysis of the entire coding region

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