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HelpTest Code LAB3360 OtoSCOPE Panel
Clinical System Name
OtoSCOPE Panel
Description
This panel includes 224 genes (version 9) known to cause non-syndromic hearing loss, Usher syndrome, and Pendred syndrome and other hearing loss-related phenotypes. It investigates both single nucleotide variants and copy number variations.
Sample Requirements
Preferred Specimen: Whole Blood
Container(s): Lavender/EDTA
Preferred Vol: 3.0 - 5.0 mL
Minimum Vol: 3.0 mL
Alternative Specimen: DNA extracted from whole blood
Container(s): Sterile plastic tube
Preferred Vol: 10 μg DNA (minimum concentration: 50 ng/μl)
Minimum Vol: 5 μg DNA (minimum concentration: 50 ng/μl)
Note: It is acceptable to collect sample prior to obtaining the paperwork. Extracted DNA is acceptable, prefer whole blood.
Alternative Specimen (e.g. salvia or buccal): Alternate Specimen Collection Kits for Genetic Testing
Processing Instructions
Reject due to:
Spin: N
Aliquot: N
Temp: 2 - 8 C
Storage location: Do not spin. Deliver sample to the Send Out rack in the CPA refrigerator. Store extra labels, a copy of the requisition, and all accompanying paperwork in the box attached to CPA fridge.
Off-site Collection: Do not spin. Refrigerate whole blood. DO NOT FREEZE.
Contact Send-outs at x72563 for additional information.
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole Blood | Room temp | 3 d |
| Whole Blood | Refrigerated | 7 d |
| Whole Blood | Frozen | N |
| Extracted DNA | Room temp | 3-4 d |
| Extracted DNA | Refrigerated | 1 y |
| Extracted DNA | Frozen | Indefinitely |
Performing Laboratory
The University of Iowa
Molecular Otolaryngology & Renal Research Laboratories (MORL)
285 Newton Rd, 5270 CBRB
Iowa City, IA 52242-1078
Phone: (319)-335-6623
Department
Department: Send Outs/Genetic
Phone Number: (206) 987-2563
Synonyms
OtoSCOPE Genetic Testing
Hearing loss panel
Deafness panel
Connexin 26
GJB2
Connexin 30
GJB6
Usher syndrome
Pendred syndrome
Non-syndromic hearing loss
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | Collected daily | 6 w |
Methodology
Method: Custom-targeted sequence capture for DNA enrichment followed by massively parallel DNA sequencing. Confirmation of all possible variants by traditional Sanger sequencing.
Reference Range
Interpretive report provided.
Send Out Instructions
| Reference Test Name: | OtoSCOPE panel |
| Reference Test Number: | OTOSC09 |
| Instructions: | Ship ambient temperature overnight via FedEx to the University of Iowa. Overnight delivery, Room temperature (DO NOT FREEZE). Ship Monday-Thursday, no Saturday delivery. Samples may be refrigerated if delivery is delayed. Keep a copy of MORL requisition and required paperwork for our records. |