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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 studues (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 - 4 C

Storage location: Do not spin.  Deliver sample to Send outs rack in 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

University of Iowa

MORL Laboratories (Molecular Otolaryngology and Renal Research Laboratories)

Department

Department:  

University of Iowa

285 Newton Road, 5270 CBRB
Iowa City, IA 52242

 

Phone Number: 319-335-6623

 

 

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.