What is the PHASE Program?
The PHASE Program is designed to help families by providing follow-up genetic testing for parents of persons previously tested with OtoSCOPE®.
This program focuses on segregation analysis of autosomal recessive hearing loss variants, which confirms a genetic diagnosis at no additional cost.
What is segregation analysis?
In genetics, segregation refers to how genetic variants are passed down through families. For autosomal recessive hearing loss, a person needs to have a variant in both copies of a specific gene. To help understand how these variants were inherited, we use a process called segregation analysis. This involves testing the biological parents to find out whether each parent passed on one of the variants.
- If each parent pass on one variant in the specific gene found in the proband, these variants are considered “in trans.” “In trans” means the variants found in the proband are on different copies of the gene being considered. This finding supports a diagnosis of an autosomal recessive condition.
- If it is found that both variants in the specific gene come from one parent, these variants are considered “in cis.” “In cis” means both variants are on the same copy of the gene (i.e., both variants have been inherited from one parent), which does not cause autosomal recessive hearing loss.
Why test the phase of autosomal recessive variants?
- To provide formal confirmation of the genetic diagnosis for persons previously tested with OtoSCOPE®
- To determine carrier status for parents
- To inform genetic counseling on recurrence risk
- To provide information for reproductive planning, such as prenatal or preimplantation genetic testing
This process ensures families have accurate genetic information, which can be crucial for making informed medical and reproductive decisions.
Quick Facts
- Test Code: PHASE
- Turnaround Time: 6 weeks
Shipping Requirements
Sample Requirements
(SEND ONLY ONE OF THE FOLLOWING SAMPLE TYPES) :
- 5µg DNA suspended in ≥ 50µl elution buffer
- minimum concentration 50ng/µl
- A260/A280 1.8-2.0
- 3-5 cc EDTA Whole Blood
- room temperature
- Saliva
- DNA Genotek, ORAGene Discover, OGR-500
- Buccal Swabs
- at least 4 swabs
- DNA Genotek, OraCollect, OCD-100
Sample Stability
- Whole Blood Sample Stability for DNA extraction
- EDTA Whole Blood is stable for 7 days at room temperature and 4 months in the refrigerator
- Saliva Collection Kits and Buccal Swabs Sample Stability
- Per the manufacturer for samples collected following the instructions provided with kit/swabs: OGR-500 saliva collection kits are stable at room temperature for several years and OCD-100 buccal swabs stable up to 80 days. Both of these kits can be shipped at room temperature.
Shipping Requirements
- Labeled with the sample type AND patient’s name, DOB, MRN and sex
- Room temperature (DO NOT FREEZE)
- Samples may be refrigerated if delivery is delayed
- Shipping and receiving dock closed on weekends and holidays
- Deliveries accepted Monday - Friday
Provide a pedigree, audiograms, clinic notes regarding hearing loss and temporal bone imaging studies (if performed).
Pathogenic Hearing Loss Autosomal Recessive Segregation Evaluation Program (PHASE Program)
Who qualifies for the PHASE Program?
An individual (proband) tested on OtoSCOPE® and had results reported on or after July 1, 2025.
The proband has two Pathogenic or Likely Pathogenic variants consistent with a diagnosis of autosomal recessive hearing loss, where phase of the variants is unknown.
The family member is a biological parent of the proband.
The family member’s sample and test requisition are received at the MORL within 180 days after the original proband OtoSCOPE® report was issued.
Who would not qualify?
Probands who have a Pathogenic or Likely Pathogenic variant(s) where phase of the variants was determined by OtoSCOPE®:
The diagnostic genetic variant was homozygous in the proband
Phase of the diagnostic variants could be determined by the testing panel
How many people can be tested?
We offer testing of biological parents of the proband (2 persons).
If the biological parents are not available for testing, please contact the MORL for additional evaluation and recommendations.
Limit time from proband testing
We only offer testing for probands with OtoSCOPE® testing reported on or after July 1, 2025.
Samples for relatives must be received within 180 days from the date the proband’s OtoSCOPE® report was issued (date reported on report).
What if the person has a VUS in an autosomal recessive gene?
Contact the MORL to determine if the proband and family members may qualify for our no cost HEAR VUS program.
What about no cost testing for autosomal dominant, X-linked, or mitochondrial diagnoses?
The MORL PHASE Program is enrolling only persons with autosomal recessive diagnoses, aiming to confirm the genetic diagnosis through parental testing.
Questions?
Do you have questions about the PHASE Program? Contact MORL Hearing Team at MORL@uiowa.edu and add “PHASE Program” in the email subject line.
The Clinical Diagnostics Service of the Molecular Otolaryngology & Renal Research Laboratories is a CLIA-approved, Joint Commission-accredited diagnostic laboratory.