CTPS1

OMIMHGNC

Synonym(s): GATD5, CTPS

Locus: 1p34.2

Protein: CTP synthase 1

 

Disorders

Tests

Test Type
Molecular (5)
Multi-Gene Panel (2)
Multi-Method Panel (2)
Test Method
Del/Dup (CNV) (2)
Sequencing, Capillary (Sanger) (2)
Sequencing, Next Gen (4)
Prenatal/Carrier
Prenatal (1)
Carrier (1)
Lab Location
USA(1)
Portugal(2)
Germany(2)
 
TAT: 4-5 Weeks
price: contact lab
CTPS1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Immunodeficiencies affecting cellular and humoral immunity – SCID and CID (NGS panel of 48 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Immunodeficiencies affecting cellular and humoral immunity – CID (NGS panel of 33 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 3-4 weeks
price: contact lab
Immunodeficiency type 24
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-3 weeks
price: contact lab
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany