XYLT1

OMIMHGNC

Synonym(s): XT-I, PXYLT1

Locus: 16p12.3

 

Disorders

Tests

Test Type
Molecular (18)
Multi-Gene Panel (11)
Multi-Method Panel (6)
Test Method
Del/Dup (CNV) (10)
Sequencing, Capillary (Sanger) (4)
Sequencing, Next Gen (11)
Prenatal/Carrier
Prenatal (14)
Carrier (15)
Lab Location
Germany(3)
USA(13)
Netherlands(1)
Spain(1)
 
TAT: 2-3 weeks
price: $1,940.00
Desbuquois dysplasia core NGS panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,570.00
Desbuquois dysplasia 2 (DBQD2)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $850.00
Desbuquois dysplasia core NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,190.00
Desbuquois dysplasia core NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $680.00
Desbuquois dysplasia 2 (DBQD2)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $990.00
Desbuquois dysplasia 2 (DBQD2)
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $1,430.00
Desbuquois dysplasia and related disorders NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $990.00
Desbuquois dysplasia and related disorders NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $2,270.00
Desbuquois dysplasia and related disorders NGS panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-6 weeks
price: contact lab
Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 2-4 weeks
price: contact lab
Single gene testing XYLT1
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Pseudoxanthoma Elasticum, Panel Massive Sequencing (NGS) 6 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-5 Weeks
price: contact lab
XYLT1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 weeks
price: $940.00
Analysis XYLT1 Gene (Desbuquois dysplasia 2)
method(s): ◦ Sequencing, Capillary (Sanger) 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
TAT: 2-4 weeks
price: $1,900.00
Spondylo-Epi-Metaphyseal dysplasias
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,500.00
Spondylo-Epi-Metaphyseal dysplasias
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $3,250.00
Spondylo-Epi-Metaphyseal dysplasias
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks
price: contact lab
Desbuquois dysplasia type 2
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany