3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-like Syndrome

Synonym(s): MEGDEL

 

GeneReviewOMIM

GeneLocusProtein
SERAC16q25.3Protein SERAC1
Test Type
Molecular (4)
Multi-Gene Panel (3)
Multi-Method Panel (1)
Test Method
Del/Dup (CNV) (1)
Sequencing, Capillary (Sanger) (1)
Sequencing, Next Gen (3)
Prenatal/Carrier
Carrier (2)
Lab Location
USA(3)
Germany(1)


Test
TAT: 4-6 weeks
price: contact lab
nucSEEK Focus
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 2-4 weeks
price: contact lab
Leigh Disease (NextGen Sequencing Panel and Copy Number Analysis; 75 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: ~2 weeks
price: contact lab
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-6 weeks
price: contact lab
Leigh Syndrome Spotlight Panel
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA