GeneTests -

Test Type

Molecular (17)
Multi-Gene Panel (15)
Multi-Method Panel (7)

Test Method

Del/Dup (CNV) (10)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (2)
Uniparental Disomy (1)
Sequencing, Next Gen (15)
Chromosome Analysis (1)

Prenatal/Carrier

Prenatal (4)
Carrier (8)

Lab Location

Canada(3)
Portugal(1)
Germany(1)
USA(12)

GeneTests

NGLY1

Disorders

Tests

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Test Type

Test Method

Prenatal/Carrier

Lab Location


TAT: 12-13 weeks price: contact lab Congenital Disorders of Glycosylation: Gene Sequencing and Deletion/Duplication Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-6 weeks price: contact lab epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 2-3 days price: contact lab Baby Genes Newborn Screening Panel method(s): ◦ Chromosome Analysis ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Mutation Scanning of Select Exons ◦ Sequencing, Next Gen ◦ Uniparental Disomy Baby Genes Inc - Golden, CO, USA
TAT: 7-8 weeks price: contact lab CDG Panel method(s): ◦ Sequencing, Next Gen Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: contact lab price: contact lab Congenital disorder of glycosylation type 1v (sequence analysis of NGLY1 gene) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal
TAT: contact lab price: contact lab NGLY1 Deficiency: NGLY1 Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Congenital Disorders of Glycosylation: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Congenital Disorders of Glycosylation: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 8-10 weeks price: contact lab Epilepsy Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 2-4 weeks price: contact lab Comprehensive Epilepsy (NextGen Sequencing Panel and Copy Number Analysis; 502 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Congenital Glycosylation Disorders (NextGen Sequencing Panel and Copy Number Analysis; 45 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Comprehensive Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 734 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Syndromic Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 577 genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 7-8 weeks price: contact lab Congenital glycosylation disease panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1-3 weeks price: $1,500.00 Invitae Epilepsy Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA
TAT: 1-3 weeks price: $1,500.00 Invitae Congenital Disorders of Glycosylation Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA
TAT: 1-3 weeks price: $1,500.00 Invitae Rett and Angelman Syndromes and Related Disorders Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA