Autism / Intellectual Disability Panels (Tier 2 and Tier 3)
Autism Spectrum Disorders (ASD) is a clinically heterogeneous group of disorders that are characterized by impaired social relationships, impaired language and communication, and repetitive behaviors. Intellectual Disability is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
GJB2 (Connexin 26) Mutation Analysis
TESTING FOR HEARING LOSS
Confirmation of a diagnosis of hearing loss with a genetic etiology or carrier testing in families with a known GJB2 mutation. Connexin testing will be performed as a sequential reflexive assay consisting of Connexin 26 (GJB2) Mutation Analysis and Connexin 30 (GJB6) Deletion Analysis. Mutations in the GJB2 (Connexin 26) gene account for 30-70% of non-syndromic recessive (and a small number of autosomal dominant) deafness in Caucasian populations.
Cystic Fibrosis Carrier Screening
Cystic Fibrosis mutation panel for general population screening. This assay may be used for determination of carrier status in individuals who have a family history of cystic fibrosis, and refinement of carrier risk for those individuals who do not have a family history of cystic fibrosis. This panel includes genotyping for 60 mutations and variants within the CFTR gene.
KRAS Gene Sequencing
TESTING FOR NOONAN SYNDROME, CFC SYNDROME, COSTELLO SYNDROME
To detect the presence of KRAS mutations in patients with a diagnosis of Noonan syndrome, Cardio-facio-cutaneous (CFC) syndrome, or Costello syndrome, particularly if PTPN11 and SOS1 testing for Noonan syndrome was previously performed, and for carrier testing in families with a known KRAS mutation. All coding exons and associated flanking splice sites of the KRAS gene will be sequenced.
Fragile X Syndrome Mutation Detection
Analysis of CGG repeats present in the FMR1 gene in a patient with clinical features consistent with Fragile X Syndrome or determination of the carrier status of a family member.
MLabs Molecular Genetics Laboratory offers state-of-the-science blood testing for inherited (germline) mutations impacting pediatric patients. These molecular signatures are used to make the most precise diagnosis possible, guiding patient-specific plans for prevention, treatment and monitoring.
Analytical platforms include Sanger DNA sequencing for an extensive list of genes, SNP chromosomal microarrays, relative-quantitative PCR, methylation analysis, MLPA, mutation screening panels (xTAG, Luminex) and SNP testing.
FOCUSING ON GENETIC MUTATIONS
Much of our pediatric molecular testing focuses on genetic mutations linked to intellectual disabilities including autism spectrum disorders. For example, chromosomal microarray analysis – which looks for quantitative variations in the genome – is becoming a first-line diagnostic for intellectual disability in children age three and younger.
Germline testing is also available to confirm diagnosis of a range of rare inherited conditions including:
- Cystic Fibrosis
- Hearing Loss
- Fragile X Syndrome
- L-Fraumeni Syndrome
- Noonan Syndrome
- PTEN Harmartoma Tumor Syndrome
- Rett Syndrome (MECP2)
- Spinal Muscular Atrophy
Although most testing is used to guide diagnosis and treatment planning in young children, we also offer testing for adults with genetically based conditions like hearing loss or autism who want to learn more about the risks they might pass on to offspring.
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MEET DR. TAYEH
EXPERTISE DELIVERED PERSONALLY
While there is no cure for autism, understanding the molecular basis for a child’s autism helps determine where he or she is on the spectrum and can inform more personalized treatment.
Marwan Tayeh, Ph.D.
Associate Professor of Pediatric Genetics.
Director, Molecular Genetics