Featured Test

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.

Featured Test

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.

Featured Test

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.

Featured Test

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.

Featured Test

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.

GERMLINE TESTING

QUICK OVERVIEW

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.

COMPREHENSIVE TESTING SOLUTIONS

DISEASE-SPECIFIC TEST MENU

AUTISM SPECTRUM DISORDERS/ INTELLECTUAL DISABILITY

Chromosomal Microarray Analysis
Fragile X Syndrome Mutation
CDKL5 Gene Sequencing
GDI1 Gene Sequencing
MBD5 Gene Sequencing
MEF2C Gene Sequencing
NLGN3 Gene Sequencing
NLGN4X Gene Sequencing
SHANK2 Gene Sequencing
SHANK3 Gene Sequencing
SLC9A6 Gene Sequencing
TCF4 Gene Sequencing
UBE3A Gene Sequencing

MECP2 (RETT SYNDROME)

MECP2 Gene Sequencing
MECP2 Deletion/Duplication
MECP2 Targeted Sequencing Familial

PTEN HARMARTOMA TUMOR SYNDROME

PTEN Gene Sequencing
PTEN Deletion/Duplication
PTEN Targeted Sequencing Familial

BREAST AND OVARIAN CANCER

BRCA1 and BRCA2 Gene Sequencing
BRCA1 and BRCA2 Targeted Sequencing, Familial
BRCA1 and BRCA2 Deletion/Duplication
BRCA Ashkenazi Jewish Founder Mutations
BRCA Mutation Panel
Hereditary Breast and Ovarian Cancer (HBOC)
Comprehensive Germline NGS Panel
Hereditary Breast and Ovarian Cancer (HBOC)
High-Moderate Risk Germline NGS Panel
PTEN Gene Sequencing
PTEN Deletion/Duplication
TP53 Gene Sequencing
TP53 Deletion/Duplication

COLORECTAL CANCER

Colorectal Cancer Germline NGS Panel
MSH2 Gene Sequencing

CYSTIC FIBROSIS

Cystic Fibrosis Full Gene Sequencing
Cystic Fibrosis Deletion/Duplication
Cystic Fibrosis Diagnostic Mutation Detection
Cystic Fibrosis Targeted Sequencing Familial

HEARING LOSS

GJB2 (Connexin 26) Mutation Analysis
GJB2 (Connexin 26) Targeted Sequencing Familial
GJB6 (Connexin 30) Deletion Analysis
WFS1 (Wolfram Syndrome) Gene Sequencing

NOONAN SYNDROME

PTPN11 Gene Sequencing
KRAS Gene Sequencing
SOS1 Gene Sequencing

FRAGILE X SYNDROME

Fragile X Syndrome Mutation Detection

LI-FRAUMENI SYNDROME

TP53 Gene Sequencing
TP53 Deletion/Duplication

NEUROFIBROMATOSIS

NF1 Gene Sequencing

MISCELLANEOUS

Apolipoprotein E Genotyping
Factor V Leiden Mutation
Hereditary Hemochromatosis Mutation
Prothrombin 20210 Mutation

CANCER GERMLINE NGS PANELS (64 GENES)

Colorectal Cancer Germline NGS Panel
19 Genes: MLH1, MSH2, MSH6, MUTYH, PMS2, EPCAM, APC, TP53, PTEN, STK11, SMAD4, BMPR1A, CDH1, CHEK2, GREM1, POLD1, POLE, ATM, AXIN2

Hereditary Breast and Ovarian Cancer Comprehensive Germline NGS Panel
21 Genes: ATM, BARD1, BRAC1, BRAC2, BRIP1, CDH1, STK11, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, TP53, FANCC, XRCC2

Hereditary Breast and Ovarian Cancer High-Moderate Risk Germline NGS Panel
9 Genes: ATM, BRAC1, BRAC2, BRIP1, CDH1, CHEK2, PALB2, PTEN, TP53

PEDIATRIC 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
Neurofibromatosis

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

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