EXOSC8

OMIMHGNC

Synonym(s): OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3

Locus: 13q13.3

Protein: Exosome complex component RRP43

 

Disorders

Tests

Test Type
Molecular (7)
Multi-Gene Panel (4)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (4)
Sequencing, Capillary (Sanger) (3)
Sequencing, Next Gen (5)
Prenatal/Carrier
Prenatal (1)
Carrier (2)
Lab Location
Portugal(2)
USA(1)
Germany(3)
Finland(1)
 
TAT: 4-6 weeks
price: contact lab
Spinal Muscular Atrophy (SMA) Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Spinal Muscular Atrophy Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
EXOSC8 gene (sequence analysis)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 8-9 weeks
price: contact lab
Spinal muscular atrophy (NGS panel for 21 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4-5 Weeks
price: contact lab
EXOSC8
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: contact lab
Spinal Muscular Atrophy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: ~2 weeks
price: contact lab
Joubert syndrome, EXOSC8 related
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany