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Test Code OTOSCP UM OtoSCOPE Panel

Important Note

Otoscope test requests will be REJECTED by the University of Iowa MORL Lab if the following documents are not submitted with sample: MORL- Hearing Loss/OtoSCOPE Testing Requisition Form, pedigree, audiograms, temporal bone imaging studies (if performed), and clinic notes regarding hearing loss. It is acceptable to collect sample prior to obtaining paperwork. Ordering provider must submit above to Sendouts (Referencelabteam@seattlechildrens.org) or fax 206-987-2417) prior to sample shipment.

Clinical System Name

OtoSCOPE Panel

Synonyms

OtoSCOPE Genetic Testing

Hearing loss panel

Deafness panel

Connexin 26

GJB2

Connexin 30

GJB6

Usher syndrome

Pendred syndrome

Non-syndromic hearing loss

 

Description

This panel includes 152 genes 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

Specimen: Whole Blood

Container(s): Lavender/EDTA

Preferred Vol: 8.0 - 10.0 mL

Minimum Vol: 5.0 mL

 

Specimen: Extracted DNA from whole blood

Container(s):

Preferred Vol: 10 μg DNA (minimum concentration: 50 ng/μl)

Minimum Vol: 10 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.

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

 

Availability

STAT Performed TAT
N Collected daily 3-4 m

 

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

Phone Number: (206) 987-2563

 

 

Reference Range

Interpretive report provided.
 

Methodology

Method: Custom-targeted sequence capture for DNA enrichment followed by massively parallel DNA sequencing.  Confirmation of all possible variants by traditional Sanger sequencing.

 

 

Special Instructions

Links to:

University of Iowa MORL Lab

Requisition

Send Out Instructions

Reference Test Name: OtoSCOPE panel
Reference Test Number:  
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.