PARN

OMIMHGNC

Synonym(s): DAN

Locus: 16p13.12

Protein: Poly

 

Disorders

Tests

Test Type
Molecular (9)
Multi-Gene Panel (6)
Multi-Method Panel (6)
Test Method
Del/Dup (CNV) (6)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (3)
Sequencing, Next Gen (7)
Prenatal/Carrier
Prenatal (3)
Carrier (4)
Lab Location
USA(3)
Germany(3)
Portugal(2)
Finland(1)
 
TAT: 4-6 weeks
price: contact lab
Inherited Bone Marrow Failure Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-6 weeks
price: contact lab
Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-5 Weeks
price: contact lab
PARN
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
CID with associated or syndromic features – All subtypes (NGS panel of 45 genes and deletion of 22q11.2 by MLPA)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
CID with associated or syndromic features - Inherited bone marrow failure/dyskeratosis congenital (NGS panel of 10 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 3-4 weeks
price: contact lab
Interstitial Lung Disease Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Dyskeratosis congenita, autosomal recessive type 6
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: contact lab
Pulmonary fibrosis and/or bone marrow failure, telomere-related, type 4
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 7-8 weeks
price: contact lab
Bone marrow failure panel
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany