Insight Medical Genetics is an integrated clinical and laboratory medical genetics practice. Insight provides testing and personalized genetic counseling & guidance for patients and referring providers in a complex and changing landscape of highly technical and deeply personal matters.
Insight's molecular and cytogenetic laboratories - both CAP accredited & CLIA certified - have a repertoire of capabilities -- NGS, qPCR, MLPA, Sanger sequencing, chromosomal microarrays, karyotyping, rapid FISH, genotyping -- that it applies to the screening and diagnosis of patient specimens including prenatal sources with which we have a particular depth of experience. The staff of the labs are particularly adept at the development of new assays and have contracted with other lab providers to develop and implement tests and assays nimbly and rapidly. ,
Caring and Comprehensive Genetics Services with the Insight Advantage
In a world where scientific knowledge is changing faster than culture, IMG brings the science of genetics and the understanding of people together to offer advanced genetic testing and counseling in a compassionate and patient-focused environment.
At IMG, our team of multidisciplinary genetics professionals including physicians, counselors and lab technicians provide genetic services in a range of medical disciplines, including preconception, prenatal and cancer genetics.
• Fiddler, M., Poorvu, T., McGaw, J., Dungan, J., and Shulman, L.P. Molecular evaluation of fetal and newborn skeletal dysplasia: applying next generation sequencing (NGS) to providing accurate diagnostic information. Central Assoc. of Obstetricians and Gynecologists, 2015. Recipient of the “Dr. Kermit C. Krantz Memorial Paper Award.”
• Fiddler, M. Fetal Cell Based Prenatal Diagnosis: Perspectives on the present and future. Review. J. Clin Med, J Clin Med. 2014 Sep; 3(3): 972–985. Published online 2014 Sep 3. doi: 10.3390/jcm3030972
Marcos Cordoba, Stephanie Andriole, Eugene Pergament, Shara M. Evans, Morris Fiddler, Mark I. Evans. Integrating microarrays into routine prenatal diagnosis. Society for Maternal Fetal Medicine, January 2014
• Fiddler, M., Shulman, L., Sibul, M., Evans, M., Benn, P., and Pergament, E. Pursuing the elusive ‘false positive’ NIPS. 13th Annual World Congress in Fetal Medicine. Marbella, Spain. June, 2013.
• Alamillo, C., Krantz, D., Evans, M., Fiddler, M., Pergament, E. Response to “Half of first trimester screen positive pregnancies with an abnormal karyotype had a normal nuchal translucency measurement.” Prenatal Diagnosis DOI: 10.1002/pd.4187, 2013.
• Fiddler, M., Shulman, L., Sibul, M., Evans, M., Benn, P., Pegament, E. Non-invasive prenatal screening: case studies on the elusive false positive. In preparation.
• Alamillo,C., Krantz, D., Evans, M., Fiddler, M., and Pergament, E. Nearly a third of abnormalities found after first-trimester screening are different than expected: 10 year experience from a single center. Prenatal Diagnosis. (2013) 32: 1-6. Online: DOI: 101002/pd4054
• Alamillo, C., Fiddler, M., and Pergament, E. Increased nuchal translucency in the presence of normal chromosomes: what’s next? (2012) Current Opinion in Obstetrics and Gynecology, 24:102-8.
• Pergament, E., Alamillo, C., Sak, K., and Fiddler, M. Genetic assessment following increased nuchal translucency and normal karyotype. (2011) Prenatal Diagnosis. 31(3):307-10. Online: 10:1002/pd2718
Chromosomal Microarray analysis of prenatal specimens -- CVS & Amnio specimens, cultured & uncultured -- using the Agilent 4x180 platform
Insight will process the following specimen types:
Direct chorionic villi: 15-20mg
Direct POC: 15-20 mg
Amniotic fluid: 2 T-25 flasks of confluent fetal cells
Extracted DNA: 3 micrograms at a minimum concentration of 100 ng/uL
Adult saliva (IMG will provide a collection kit if requested)
A maternal blood specimen of at least 10-15 mL (lavender top/EDTA) is required to conduct the necessary maternal cell contamination studies prior to all next-generation sequencing tests.
Adult blood specimen of at least 5 mL (green top/sodium heparin) for chromosome analysis
We continue to find full, single gene sequencing of particular value for the reflex testing of spouses identified as being carriers of one or more pathogenic variants; for validation or supplemental sequencing of genes on NGS panels; for genes that are complicated by the presence of highly homologous pseudogenes for which we have developed strategies for the enrichment of the targeted gene.
Insight will custom develop a sequencing assay for genes that meet a limited set of criteria. Please contact Insight for details on customized development of assays.
Develop and run genotyping assays. Have been successful with distinction targets in genes in the presence of a highly homologous or pseudogene that can confound result interpretation. Pricing dependent on volume.
Osteogenesis imperfecta (14 genes)
Skeletal dysplasia (8 genes... 35 conditions; expansion TBA)
Noonan syndrome (11 genes)
Prenatal and postnatal testing.
MLPA assays for alpha-thalassemia, non-syndromic hearing loss (GJB2), and SMN1 + SMN2 copy number.
Customized assay development.
A full chromosome analysis is the standard for prenatal diagnosis of chromosome abnormalities following a CVS or amniocentesis procedure. Karyotyping for blood specimens and Products-of-Conception (POC).
See Service Offering regarding specimen type and quantity.
FISH genetic testing is used to quickly detect many of the most common chromosome abnormalities, such as:
When the CVS or amniocentesis sample is received by the laboratory in the morning, Insight can provide same-day FISH results. See Service Offering for specimen type and quantity.
Levels of Assessment:
I: qPCR for SMN1 copy number
II: qPCR + SMN1 (specific) sequencing for point mutations and small indels
III: MLPA for SMN1 and SMN2 copy number + specific sequencing of SMN1 for point mutations and small indels
ALSO: Specific SMN1 full gene sequencing for diagnosis (and carrier screening).
Blood Banking and Transfusion Medicine Services
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