On The Spot e-News
Volume 2, Issue 2 | July 2007
In this issue:
- Introducing Genoglyphix
- Signature Spotlight: Interstitial deletion 10q
- Signature Profile: Emily Rorem, Client Services Supervisor
Introducing Genoglyphix
Signature Genomic Laboratories, LLC, is the leader in microarray testing of individuals suspected to have chromosome abnormalities. Signature’s exemplary service now expands to the next level of client support: Genoglyphix.
Based on the same proprietary software used in our laboratory, Signature’s Genoglyphix system allows complete, hands-on visualization of microarray data generated using our Signature microarray technology.
Access the Genoglyphix secure online server to visualize microarray test results, browse the genome databases and order BAC clones used on our chips for FISH testing. Use our vast experience to enhance your work. And take advantage of our real-time technical support to answer your questions.
Questions? Call Signature Genomic Laboratories at 877.GGX.CHIP (877.449.2447) to find out how your laboratory can benefit from Signature’s Genoglyphix technology.
Signature Spotlight Case #5: interstitial deletion 10q
This issue's Spotlight Case involves the identification and characterization of an interstitial deletion of 10q.
The patient is a 6-year, 2-month-old male. The patient was referred to a genetics clinic for genetic evaluation at 2.5 years of age with developmental delays and mild hypotonia. The patient was also noted to have some mildly distinctive facial features. Testing done at the initial evaluation included chromosome analysis, subtelomeric FISH, SMS FISH, 22q11.2 FISH, molecular Fragile X and Prader-Willi methylation analysis, and transferrin isoelectric focusing. All testing was normal.
On evaluation at 6 years, the patient was making steady progress developmentally, but still exhibited gross and fine motor delay, with most significant delays in speech. The patient’s growth parameters (height, weight, and head circumference) were all within normal limits. Testing at this visit included plasma acylcarnitine profile, urine organic acids, plasma lactate, and CMP, all of which were normal.
Microarray analysis using the SignatureChip® demonstrated a single-copy loss of 14 BAC clones spanning ~2.1 Mb at 10q26.3, indicating an interstitial deletion of 10q (Figure 1). FISH performed with a probe from this region confirmed a deletion at 10q26.3 (Figure 2).
The results from this case support the findings of a recent study by Signature in which version 4 of the SignatureChip®, with expanded coverage of the subtelomeric regions, was used to characterize 169 clinically significant subtelomeric abnormalities. Of these abnormalities, 42 were interstitial deletions that would have been missed by subtelomere FISH panels that use a single clone to the most distal unique sequence for each region. These studies suggest the potential of microarrays with to be a first-order subtelomeric screening tool.
Emily Rorem, Client Services Supervisor
Emily Rorem, Client Services Supervisor at Signature Genomic Laboratories, exemplifies the company's dual dedication to technical expertise and customer service. Rorem acts as a troubleshooter for both Signature's laboratories and referring laboratories, reviewing patient charts for accuracy, answering technical questions from clients, and discussing results with physicians.
Rorem, who has been with Signature since shortly after its inception, transitioned from the laboratory as the company's case volumes necessitated the creation of a department whose duty it was to answer client questions.
"This department allows the company to have people with technical knowledge, and the ability to communicate that knowledge, available to clients," Rorem says.
Although the Client Services department is still small, Rorem draws on the experience of many individuals from within the company.
"We have a lot of people here with years of experience with microarrays, and, with Client Services as the liaison, we're making their knowledge available to our clients," Rorem says.