XPR1

OMIMHGNC

Synonym(s): SYG1, X3

Locus: 1q25.3

 

Disorders

Tests

Test Type
Molecular (7)
Multi-Gene Panel (3)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (4)
Sequencing, Capillary (Sanger) (4)
Repeat Expansion / Contraction (1)
Sequencing, Next Gen (4)
Prenatal/Carrier
Carrier (2)
Lab Location
Germany(3)
USA(1)
Spain(1)
Netherlands(2)
 
TAT: 4-6 weeks
price: contact lab
Basal Ganglia Calcification Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 2-4 weeks
price: contact lab
Single gene testing XPR1
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
TAT: 4-5 Weeks
price: contact lab
XPR1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Primary Familial Brain Calcification Type 6, Sequencing XPR1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: ~2 weeks
price: contact lab
Basal ganglia calcification type 6, idiopathic
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 10 weeks
price: contact lab
NGS panel - dementia/ALS
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
VU University Medical Center, Genome Diagnostics Amsterdam - Amsterdam, Netherlands
TAT: 10 weeks
price: contact lab
NGS panel - Parkinson
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
VU University Medical Center, Genome Diagnostics Amsterdam - Amsterdam, Netherlands