Pediatric Neurology Region Of Interest- Proband Only

Skip to main content Search form Search Search Menu  The Claritas Experience Tests & Ordering Complete Test Menu How to Order Order Specimen Collection Kits Sample Requirements Data Return Program What We Do Resources Clinicians Clinical Experience Orthogonal Approach Expert Network NextCODE Services Overview Clinical Resources and Services Billing and Financial Assistance Data Return Program…

Read More

RPS24 Sequencing

Test Background Patients with Diamond-Blackfan anemia (DBA) usually present in infancy with hypoplastic anemia and macrocytosis. Approximately 50% of patients have congenital malformations including anomalies of the thumb and/or upper limbs and congenital heart malformations. About 30% have delayed growth. Patients with DBA are at increased risk of developing leukemia. Most cases (55-60%) of DBA…

Read More

UGT1A TA Repeat Analysis

Skip to main content Search form Search Search Menu The Claritas Experience Tests & Ordering Complete Test Menu How to Order Order Specimen Collection Kits Sample Requirements Data Return Program What We Do Resources Clinicians Clinical Experience Orthogonal Approach Expert Network NextCODE Services Overview Clinical Resources and Services Billing and Financial Assistance Data Return Program…

Read More

XPC Sequencing

Skip to main content Search form Search Search Menu The Claritas Experience Tests & Ordering Complete Test Menu How to Order Order Specimen Collection Kits Sample Requirements Data Return Program What We Do Resources Clinicians Clinical Experience Orthogonal Approach Expert Network NextCODE Services Overview Clinical Resources and Services Billing and Financial Assistance Data Return Program…

Read More

FLNA Sequencing

Skip to main content Search form Search Search Menu The Claritas Experience Tests & Ordering Complete Test Menu How to Order Order Specimen Collection Kits Sample Requirements Data Return Program What We Do Resources Clinicians Clinical Experience Orthogonal Approach Expert Network NextCODE Services Overview Clinical Resources and Services Billing and Financial Assistance Data Return Program…

Read More

SMN1 Exon 7 Deletion/Duplication

Skip to main content Search form Search Search Menu The Claritas Experience Tests & Ordering Complete Test Menu How to Order Order Specimen Collection Kits Sample Requirements Data Return Program What We Do Resources Clinicians Clinical Experience Orthogonal Approach Expert Network NextCODE Services Overview Clinical Resources and Services Billing and Financial Assistance Data Return Program…

Read More

COL1A1 Sequencing

Test Background Mutations in COL1A1 and COL1A2 are associated with osteogenesis imperfecta (OI) types I, II, III, and IV and Ehlers Danlos syndrome arthrochalasia type also known as types VIIA and VIIB (EDS VIIA and VIIB). Both conditions are inherited in an autosomal dominant manner. EDS VIIA/B is characterized by congenital hip dislocation, extreme joint…

Read More

TWIST1 Sequencing

Test Background Saethre-Chotzen syndrome (SCS) is caused by either sequence variants or deletions of the TWIST1 gene. It is inherited in an autosomal dominant manner. Mutations may be inherited from an affected parent or may be de novo. SCS is characterized by coronal synostosis, facial asymmetry, ptosis, and a distinctive ear appearance of a small…

Read More

SLC26A3 Sequencing

Skip to main content Search form Search Search Menu The Claritas Experience Tests & Ordering Complete Test Menu How to Order Order Specimen Collection Kits Sample Requirements Data Return Program What We Do Resources Clinicians Clinical Experience Orthogonal Approach Expert Network NextCODE Services Overview Clinical Resources and Services Billing and Financial Assistance Data Return Program…

Read More

HAX1 Sequencing

Skip to main content Search form Search Search Menu The Claritas Experience Tests & Ordering Complete Test Menu How to Order Order Specimen Collection Kits Sample Requirements Data Return Program What We Do Resources Clinicians Clinical Experience Orthogonal Approach Expert Network NextCODE Services Overview Clinical Resources and Services Billing and Financial Assistance Data Return Program…

Read More