WHAT WE DO

CombiMatrix specializes in chromosomal microarray testing for prenatal diagnosis, miscarriage analysis (products of conception), pediatric developmental disorders, and pre-implantation genetic screening. We also offer a range of conventional cytogenetic tests, including rapid aneuploidy screening, karyotyping, and custom FISH analysis. Chromosomal microarray analysis is recommended as a first-tier test (instead of karyotyping) for the evaluation of pregnancies with fetal ultrasound abnormalities, fetal death/stillbirth, and for individuals with intellectual disability, developmental delays, congenital anomalies, and autism spectrum disorders.

WE ARE HERE TO SUPPORT YOU

Chromosomal microarray analysis is a powerful diagnostic tool, however, there are times when results indicate a novel or complex variant. For this reason, CombiMatrix is pleased to offer complimentary consultative services through our Genetic Counseling Services program. Through this program, you have ready access to our team of board certified genetic counselors, who can provide you with expert assistance for case review, appropriate test selection, result interpretation, and follow-up recommendations. You can speak to one of our genetic counselors by phone by calling 800.710.0624, option 3, from 6am PST to 6pm PST, Monday through Friday, or email your questions to: gc@combimatrix.com.

GENETIC COUNSELING SERIVICES PROGRAM

Genetic counseling services available to clinicians and their professional staff include:

  • Clinical indications for microarray analysis based on professional guidelines and other published, peer-reviewed literature
  • Technical performance characteristics of the array, including coverage for specific disorders, chromosomal loci and/or genes
  • Detailed discussion of patient results, recommendations, and further studies (as indicated)
  • Expert guidance with respect to providing your patients with a tailored explanation of their results
  • Abnormal prenatal result call-out services to ensure all results have been received and that any questions the clinician may have are answered promptly

Upon request, CombiMatrix’s Genetic Counseling Services program will compile an Extended Genetic Counseling Report for rare, de novo pathogenic variants or variants of unclear clinical significance. This report details the gene content of the variant(s) to determine whether there may be genes of interest within the region that are relevant to the patient’s phenotype. Because of its complex nature, this guide has been designed primarily for use by geneticists and genetic counselors to assist with advanced result interpretation.

CONTACT US

Michelle Strecker, MS, LCGC
Senior Director, Genetic Counseling Services (West Coast)
Tel: 949.255.1585
email: mstrecker@combimatrix.com

Mary Travis, MS, LCGC
Genetic Counselor (East Coast)
Tel: 949.255.0915
email: mtravis@combimatrix.com

Sara Commander, MS, LCGC
Genetic Counselor (East Coast)
Tel: 949.255.0918
email: scommander@combimatrix.com