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Genetix Carrier Screening

ASPiRA GenetiX Carrier Screening

A comprehensive carrier screening offering to inform your decision making and uncover risk for your patients. Our laboratory offers several panel options to fit each patient need.

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

Aspira GenetiX Carrier Panels

Core 6

Focuses on 6 of the most common genetic disorders seen within the general population. Carrier screening for these disorders has been recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG). (Cystic Fibrosis, Spinal Muscular Atrophy, Fragile X Syndrome, Hemoglobinapathies (HBB and HBA), Sickle Cell Disease).

Ashkenazi Jewish Carrier Screening 44 Gene Panel

This panel focuses on 44 of the most impactful genes commonly known to cause recessive genetic disorders as seen at high frequencies within the Ashkenazi Jewish population. In addition to spinal muscular atrophy (SMA) and fragile X syndrome, ACOG recommends that couples of Ashkenazi Jewish ancestry be offered carrier screening for Tay-Sachs disease, Canavan disease, Cystic Fibrosis, and Familial Dysautonomia. Furthermore, advocacy groups such as the Jewish Genetic Disease Consortium also recommend testing for other disorders such as mucolipidosis IV, Niemann-Pick disease type A, Fanconi anemia group C, Bloom syndrome, and Gaucher disease. Visit the Jewish Genetic Disease Consortium website to view the full list of genetic disorders recommended for carrier screening for Jewish couples.

Carrier Screening 37 Gene Panel

This pan-ethnic panel that analyzes 37 genes for pathogenic mutations known to cause AR and X-linked prevalent disorders with an elevated carrier frequency across ethnicities.

Carrier Screening 155 Gene Panel

A smaller, expanded pan-ethnic panel appropriate for patients that want to screen for common and severe disorders. Genes included from the smaller panels as well as well-defined disorders that may have a severe impact on the quality of life, and disorders found on the newborn screen. All diseases listed have known reported pathogenic variants and represent a carrier frequency <1:500.

Carrier Screening 327 Gene Panel

This panel screens for more than 320 recessive and X-linked conditions for patients of all ethnicities. Most of the diseases included in this panel have a significant impact on quality of life, and/or daily activities.

Note: Male patients will not be screened for X-linked 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.

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.

High Quality Genetic Testing

  • Coverage*

    99.9% at 50x

  • Turn Around Time

    2-3 Weeks

  • Sample Requirements

    Blood (1-4mL EDTA, lavender top tube) and Saliva

  • Detection & Duplication

    ≥ 1 exon resolution

* Full gene sequencing and deletion/duplication, including detection of MSH2 inversion, BRCA2 Alu variant, and PMS2 (including exons (1-5 and 12.15), as well as sequencing of noncoding regions for selected genes.

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.