SLC35D1

OMIMHGNC

Synonym(s): UGTREL7, KIAA0260

Locus: 1p31.3

Protein: UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter

 

Disorders

Tests

Test Type
Molecular (29)
Multi-Gene Panel (25)
Multi-Method Panel (12)
Test Method
Del/Dup (CNV) (12)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (7)
Sequencing, Next Gen (19)
Prenatal/Carrier
Prenatal (14)
Carrier (14)
Lab Location
Spain(2)
Portugal(2)
Germany(5)
USA(13)
Poland(1)
Canada(6)
 
TAT: 2-3 weeks
price: $1,150.00
Skeletal Dysplasia extended NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,300.00
Skeletal Dysplasia core and extended NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 12-13 weeks
price: contact lab
Congenital Disorders of Glycosylation: Gene Sequencing and Deletion/Duplication Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 12-13 weeks
price: contact lab
Skeletal Dysplasia: Sequencing Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 12-13 weeks
price: contact lab
Disproportionate Short Stature: Sequencing Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 7-8 weeks
price: contact lab
NGS of 6 genes: COL11A1, COL2A1, SLC26A2, SLC35D1, TRIP11, TRPV4.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 2-4 weeks
price: $1,840.00
Skeletal Dysplasia core and extended NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $1,490.00
Skeletal Dysplasia extended NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
Inherited Disease Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 2-4 weeks
price: $1,490.00
Skeletal Dysplasia Extended NGS Panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-5 weeks
price: contact lab
Severe Recessive Childhood Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Skeletal dysplasia (NGS panel for 31 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Schneckenbecken dysplasia (sequence analysis of SLC35D1 gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Single gene testing SLC35D1
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Disproportionate Short Stature: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Disproportionate Short Stature: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Skeletal Dysplasia: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Skeletal Dysplasia: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Congenital Disorders of Glycosylation: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Congenital Disorders of Glycosylation: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 4-6 weeks
price: contact lab
Potentially lethal skeletal disorders Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Skeletal Dysplasias, Panel Massive Sequencing (NGS) 36 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-6 Weeks
price: contact lab
Skeletal Dysplasias NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
SLC35D1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-4 weeks
price: $2,990.00
Skeletal Dysplasia core and extended NGS panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks
price: contact lab
Schneckenbecken dysplasia
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks
price: contact lab
Skeletal dysplasia extended panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany