ASPiRA GenetiX Carrier Screening

Comprehensive carrier screening providing valuable information to you and your patients

Ethnic-specific, pan-ethnic, and expanded carrier screening are acceptable strategies for prepregnancy and prenatal carrier screening.  Each health care provider or practice should establish a standard approach that is consistently offered to and discussed with each patient, ideally before pregnancy.

ACOG Committee Opinion Number 690 March 2017

 

 

 

 

 

 

 

 

 

 

 

 

Inherited Diseases Covered by ASPiRA GenetiX Carrier Screening

  • Cystic Fibrosis
  • Fragile X
  • Sickle Cell Anemia
  • Spinal Muscular Atrophy
  • Tay-Sachs Disease
  • Alpha & Beta Thalassemia
  • Canavan Disease
  • Bloom Syndrome
  • Wilson Disease
  • Duchenne muscular dystrophy
  • Over 320 hereditary conditions

Testing Highlights

Cystic Fibrosis

Full gene sequencing is performed which is able to identify 1700 known disease-causing variants associated with Cystic Fibrosis.

Fragile X Syndrome

PCR amplification is used to detect the CGG repeat expansion of the FMR1 gene down to a single repeat. We can also detect AGG interruptions, which may decrease the size of the CGG repeat expansion when inherited from the mother.

Fragile X graphic

Spinal Muscular Atrophy

ASPiRA LABS® can detect SMA “silent carriers” by testing for the SMN1 specific haplotype (c.*3+80 T>G ; c.*211_*212del) in concert with a normal copy number of SMN1. “Silent Carriers” are patients with two copies of the SMN1 gene on one chromosome and zero copies on the other ([2+0] configuration). Standard SMA screening counts the number of SMN1 copies only. If a patient has two copies of the SMN1 gene, there is still a chance they are a carrier. ASPiRA LABS® enhanced testing improves detection rates and/or residual risk for SMA “silent carrier” screening.

Spinal Muscular Atrophy graphic

High Quality Genetic Testing

Coverage*
99.9% at 20x

Turn around time
2-3 weeks

Sample Requirements
+ Blood (1-4 ml EDTA, lavender top tube)
+ Saliva

Detection & Duplication
≥ 2 exon resolution

Pre- and Post-Testing Genetic Counseling

ASPiRA LABS® offers Pre and Post Test Genetic Counseling Personalized Genetic expertise.

Pre-Test Consultation

Talk with a genetic expert by phone or video once your test is ordered. We review personal and family health history, answer any questions you may have, and determine if you meet eligibility for test authorization.

Results Consultation

Review test results with a genetic counselor or medical geneticist. During this phone or video session, you are provided an opportunity to discuss the results of the test and their implications.

SCHEDULE a genetic counseling consultation

CONTACT US to learn more