3-Methylglutaconic Aciduria Type 7 with Cataracts, Neurologic Involvement and Neutropenia

Synonym(s): MGCA7

 

OMIM

GeneLocusProtein
CLPB11q13.4Caseinolytic peptidase B protein homolog
Test Type
Molecular (4)
Multi-Gene Panel (3)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (3)
Sequencing, Capillary (Sanger) (1)
Sequencing, Next Gen (3)
Prenatal/Carrier
Carrier (3)
Lab Location
Germany(1)
USA(3)


Test
TAT: 2-3 weeks
price: contact lab
Single gene testing CLPB
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
TAT: 1-3 weeks
price: $1,500.00
Invitae Phagocyte Defects Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae 3-Methylglutaconic Aciduria Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
Invitae Primary Immunodeficiency Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA