Cytogenetics (Chromosome Analysis)
Through our partnership with ARUP Laboratories, GMH laboratory offers chromosome evaluation of prenatal, postnatal, and oncology samples. The cytogenetics and molecular cytogenetics menu includes a wide variety of tests for constitutional clinical indications such as congenital anomalies related to inherited conditions due to aneuploidy (i.e. Down syndrome), microdeletion syndromes such as Prader-Willi, and other chromosomal abnormalities. The laboratory also offers a large menu of molecular cytogenetic probes for the evaluation of hematological malignancies. The newest molecular technique, comparative genomic hybridization (CGH), uses genomic microarray analysis for the detection of chromosomal imbalances in constitutional conditions is also available. In addition, FISH is offered for investigation of a set of medically important trisomies.

Genetics
Through our partnership with ARUP Laboratories, GMH laboratory is able to provide a comprehensive menu of testing to assist physicians in the diagnosis of patients with genetic disorders. This comprehensive menu includes tests for inherited metabolic diseases, carrier screening, cytogenetics, inborn errors of metabolism, newborn screening, predisposition assessment, hemoglobinopathy evaluation, red blood cell enzyme disorders, pharmacogenomics, and sequencing.
The molecular genetics menu offers more than 25 different DNA tests to assist physicians in the diagnosis of patients with genetic disorders; to identify pre-symptomatic, carrier, and fetal testing; to follow up an abnormal newborn screen; and predictive testing for drug metabolism. In addition, full-gene analysis is available for tests such as cystic fibrosis, beta globin, and hereditary hemorrhagic telangiectasia. Once the mutation is identified, family-specific mutation is offered.   The latest state-of-the-art technologies are utilized to provide the best quality of service including molecular methods such as RT-PCR, sequencing, molecular cytogenetics, FISH, mass spectrometry, and microarray among others.
Some of the genetic tests performed include fragile X syndrome, DNA testing; cystic fibrosis mutation panel and full gene sequencing; Huntington disease; galactosemia, panel and full gene sequencing; hemochromatosis mutation detection (C282Y, H63D, & S65C); achondroplasia, hypochondroplasia, and thanatophoric dysplasia type I and II; Ashkenazi Jewish disorders; and factor V Leiden by PCR and fluorescence monitoring.

KRAS Mutation Analysis by PCR, EGFR Mutation Analysis by PCR
Gaston Memorial Hospital Laboratory will refer specimens for KRAS Mutation Analysis by PCR, EGFR Mutation Analysis by PCR or other genetic testing offered specifically by Genzyme Genetics upon physician request.
For additional information, contact our Client Services department.

Oncotype DX® Breast Cancer Assay
Gaston Memorial Hospital Laboratory will refer specimens for Oncotype DX® testing to Genomic Health, Inc. upon physician request.  For additional information, contact our Client Services department.


BRACAnalysis®, Melaris®, Colaris AP®, and Colaris®
It is the policy of Gaston Memorial Hospital Laboratory to refer providers and patients who request hereditary genetic cancer testing offered specifically by Myriad Genetic Laboratories, Inc., such as BRACAnalysis®, Melaris®, Colaris AP®, and Colaris® to Carolinas Medical Center - Department of Genetics. 

CMC- Dept. of Genetics is staffed with certified genetic counselors and serves as a genetic testing specimen collection site.  This allows direct provider and patient access to genetic counselors who are able to assist in informed decision making and interpretation of results. 

Current hereditary cancer genetic testing offered by Myriad Genetic Laboratories, Inc.:
        BRACAnalysis®, genetic testing for hereditary breast and ovarian cancer
        Melaris®, genetic testing for hereditary melanoma
        Colaris AP®, genetic testing for adenomatous polyposis syndromes
        Colaris®, genetic testing for nonpolyposis colorectal cancer (HNPCC)

The patient's physician is responsible for scheduling a consultative appointment and to provide all necessary patient information prior to initial appointment. 
Direct patient referrals are accepted, however a provider referral is preferred. 

Carolinas Medical Center - Dept. of Genetics
Phone:   (704) 381-6810.
PO Box 32861
1000 Blythe Boulevard
Charlotte, NC 28232