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

NOONAN SYNDROME
FRAGILE X SYNDROME
LI-FRAUMENI SYNDROME
NEUROFIBROMATOSIS
SPINAL MUSCULAR ATROPHY

SNM1 and SNM2 Deletion/Duplication

MISCELLANEOUS
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

Endometrial/Uterine Cancer Germline NGS Panel
13 Genes: BRCA1, BRAC2, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, TP53, STK11, POLD1

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

Melanoma Cancer Germline NGS Panel
6 Genes:
BRCA1, BRCA2, CDKN2A, CDK4, TP53, PTEN

Neurofibromatosis Germline NGS Panel
3 Genes:
NF1, NF2, SPRED1

Pancreatic Cancer Germline NGS Panel
18 Genes:
APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53, CDK4, BMPR1A, SMAD4, VHL, XRCC2

Paraganglioma Cancer Germline NGS Panel
12 Genes:
SDHAF2, MAX, TMEM127, FH, MEN1, NF1, RET, VHL, SDHB, SDHC, SDHD, SDHA

Prostate Cancer Germline NGS Panel
6 Genes:
BRCA1, BRCA2, CHEK2, HOXB13, NBN, TP53

Renal Cancer Germline NGS Panel
19 Genes:
VHL, PMS2, PTEN, TP53, EPCAM, FH, FLCN, MET, MLH1, MSH2, MSH6, SDHB, SDHC, SDHD, SDHA, BAP1, TSC1, TSC2, MITF

Stomach Cancer Germline NGS Panel
11 Genes:
MLH1, MSH2, MSH6, EPCAM, PMS2, APC, TP53, STK11, CDH1, BMPR1A, SMAD4

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.

GET STARTED

Order a test today.

Patient FAQ Computer Screen

QUESTIONS?

WE'VE GOT ANSWERS.

  • How do I order a test?
  • What are acceptable samples?
  • Where do I find results?
  • How can I order a specimen kit?

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 

 

Marwan