Test Catalog

Test Id : HHLP

AudioloGene Hereditary Hearing Loss Panel, Varies

Useful For
Suggests clinical disorders or settings where the test may be helpful

Establishing a diagnosis of a syndromic or nonsyndromic hereditary hearing loss disorder

 

Identifying variants within genes known to be associated with hereditary hearing loss, allowing for predictive testing of at-risk family members

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

Hereditary hearing loss is a genetically heterogeneous condition that can be either syndromic or nonsyndromic in origin.

 

This panel evaluates 160 genes related to both syndromic and nonsyndromic hereditary hearing loss.

 

The following genes are investigated in this panel test: ABHD12, ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, ATP6V1B1, BCS1L, BDP1, BSND, BTD, CABP2, CACNA1D, CATSPER2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CEP78, CHD7, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, CRYM, DCDC2, DFNA5 (GSDME), DIABLO, DIAPH1, DIAPH3, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR2, FLNA, FOXC1, FOXI1, GATA3, GIPC3, GJB2, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, HARS2, HGF, HOMER2, HOXA2, HSD17B4, ILDR1, JAG1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MCM2, MET, MIR96, MITF, MSRB3, MT-RNR1, MT-TS1, MYH14, MYH9, MYO3A, MYO6, MYO7A, MYO15A, NARS2, NF2, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PEX1, PEX6, PHYH, PJVK, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, PTPN11, PTPRQ, RDX, RIPOR2, S1PR2, SERPINB6, SIX1, SLC17A8, SLC22A4, SLC26A4, SLC26A5, SLC52A2, SLC52A3, SLITRK6, SMPX, SNAI2, SOX10, STRC, SYNE4, TBC1D24, TCOF1, TECTA, TIMM8A, TJP2, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TWNK, USH1C, USH1G, USH2A, WBP2, WFS1, and WHRN

Reflex Tests
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test Id Reporting Name Available Separately Always Performed
FIBR Fibroblast Culture Yes No
CRYOB Cryopreserve for Biochem Studies No No

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

If skin biopsy is received, fibroblast culture and cryopreservation for biochemical studies will be added at an additional charge.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS)/Polymerase Chain Reaction (PCR)/Digital Droplet PCR (ddPCR)/ qPCR/Sanger Sequencing/Gene Dosage Analysis by Multiplex Ligation- Dependent Probe Amplification (MLPA)

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Hereditary Hearing Loss Panel

Aliases
Lists additional common names for a test, as an aid in searching

ADCADN

ARTS

AUNA1

Auditory neuropathy, autosomal dominant, 1

BOS2

BOS3

BVVLS

C10orf2

Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant

Charcot-Marie-Tooth disease X-linked recessive 5

CMTX5

CRDHL

Deafness, autosomal dominant 1

Deafness, autosomal dominant 2A

Deafness, autosomal dominant 2B

Deafness, autosomal dominant 3A

Deafness, autosomal dominant 3B

Deafness, autosomal dominant 4A

Deafness, autosomal dominant 4B

Deafness, autosomal dominant 5

Deafness, autosomal dominant 6/14/38

Deafness, autosomal dominant 8/12

Deafness, autosomal dominant 9

Deafness, autosomal dominant 10

Deafness, autosomal dominant 11

Deafness, autosomal dominant 13

Deafness, autosomal dominant 15

Deafness, autosomal dominant 17

Deafness, autosomal dominant 20/26

Deafness, autosomal dominant 22

Deafness, autosomal dominant 23

Deafness, autosomal dominant 25

Deafness, autosomal dominant 28

Deafness, autosomal dominant 36

Deafness, autosomal dominant 39

Deafness, autosomal dominant 41

Deafness, autosomal dominant 40

Deafness, autosomal dominant 44

Deafness, autosomal dominant 50

Deafness, autosomal dominant 51

Deafness, autosomal dominant 56

Deafness, autosomal dominant 64

Deafness, autosomal dominant 66

Deafness, autosomal dominant 67

Deafness, autosomal dominant 68

Deafness, autosomal dominant 69

Deafness, autosomal dominant 70

Deafness, autosomal dominant 73

Deafness, autosomal recessive 1A

Deafness, autosomal recessive 1B

Deafness, autosomal recessive 2

Deafness, autosomal recessive 3

Deafness, autosomal recessive 4

Deafness, autosomal recessive 4 with enlarged vestibular aqueduct

Deafness, autosomal recessive 6

Deafness, autosomal recessive 7

Deafness, autosomal recessive 8/10

Deafness, autosomal recessive 9

Deafness, autosomal recessive 15

Deafness, autosomal recessive 16

Deafness, autosomal recessive 18

Deafness, autosomal recessive 18A

Deafness, autosomal recessive 21

Deafness, autosomal recessive 22

Deafness, autosomal recessive 23

Deafness, autosomal recessive 24

Deafness, autosomal recessive 25

Deafness, autosomal recessive 28

Deafness, autosomal recessive 29

Deafness, autosomal recessive 30

Deafness, autosomal recessive 31

Deafness, autosomal recessive 35

Deafness, autosomal recessive 36

Deafness, autosomal recessive 37

Deafness, autosomal recessive 39

Deafness, autosomal recessive 42

Deafness, autosomal recessive 44

Deafness, autosomal recessive 48

Deafness, autosomal recessive 49

Deafness, autosomal recessive 53

Deafness, autosomal recessive 59

Deafness, autosomal recessive 60

Deafness, autosomal recessive 61

Deafness, autosomal recessive 63

Deafness, autosomal recessive 66

Deafness, autosomal recessive 66/67

Deafness, autosomal recessive 68

Deafness, autosomal recessive 70

Deafness, autosomal recessive 74

Deafness, autosomal recessive 76

Deafness, autosomal recessive 77

Deafness, autosomal recessive 79

Deafness, autosomal recessive 82

Deafness, autosomal recessive 84

Deafness, autosomal recessive 84A

Deafness, autosomal recessive 86

Deafness, autosomal recessive 88

Deafness, autosomal recessive 89

Deafness, autosomal recessive 91

Deafness, autosomal recessive 93

Deafness, autosomal recessive 94

Deafness, autosomal recessive 97

Deafness, autosomal recessive 98

Deafness, autosomal recessive 99

Deafness, autosomal recessive 101

Deafness, autosomal recessive 102

Deafness, autosomal recessive 103

Deafness, autosomal recessive 104

Deafness, autosomal recessive 105

Deafness, autosomal recessive 106

Deafness, autosomal recessive 107

Deafness, X-linked 1

Deafness, X-linked 2

Deafness, X-linked 4

Deafness, X-linked 5

Deafness, X-linked 6

DFNA1

DFNA2A

DFNA3A

DFNA3B

DFNA4A

DFNA4B

DFNA6/14/38

DFNA8/12

DFNA9

DFNA10

DFNA11

DFNA13

DFNA15

DFNA17

DFNA20/26

DFNA22

DFNA23

DFNA25

DFNA28

DFNA36

DFNA39

DFNA40

DFNA41

DFNA44

DFNA50

DFNA51

DFNA56

DFNA64

DFNA66

DFNA67

DFNA68

DFNA69

DFNA70

DFNA73

DFNB1A

DFNB1B

DFNB2

DFNB3

DFNB4

DFNB6

DFNB7

DFNB8

DFNB9

DFNB12

DFNB15/72/95

DFNB16

DFNB18

DFNB18A

DFNB21

DFNB22

DFNB23

DFNB24

DFNB25

DFNB28

DFNB29

DFNB30

DFNB31

DFNB35

DFNB36

DFNB37

DFNB39

DFNB42

DFNB44

DFNB48

DFNB49

DFNB53

DFNB60

DFNB61

DFNB63

DFNB66

DFNB66/67

DFNB68

DFNB70

DFNB74

DFNB76

DFNB77

DFNB79

DFNB82

DFNB84

DFNB84A

DFNB86

DFNB88

DFNB89

DFNB91

DFNB93

DFNB94

DFNB97

DFNB98

DFNB99

DFNB101

DFNB102

DFNB103

DFNB104

DFNB105

DFNB106

DFNB107

DFNX1

DFNX2

DFNX4

DFNX5

DFNX6

FAM65B

GPR98

HDR

Hypoparathyroidism, sensorineural deafness, and renal dysplasia

JLNS

Next Gen Sequencing Test

OPD

PHARC

POU4F3

RTA with deafness

SANDD

USH1B

USH1D

USH1D/F

USH1F

USH1J

USH2C

USH2D

USH3A

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

If skin biopsy is received, fibroblast culture and cryopreservation for biochemical studies will be added at an additional charge.

Specimen Type
Describes the specimen type validated for testing

Varies

Ordering Guidance

Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Mutation, Targeted Testing, Varies.

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection. 

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Specimen Type: Whole blood

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 14 days

Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.

 

Specimen Type: Skin biopsy

Supplies: Fibroblast Biopsy Transport Media (T115)

Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin.

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient

Additional Information: A separate culture charge will be assessed under FIBR / Fibroblast Culture, Tissue. An additional 4 weeks is required to culture fibroblasts before genetic testing can occur.

 

Specimen Type: Cultured fibroblast

Container/Tube: T-25 flask

Specimen Volume: 2 Flasks

Collection Instructions: Submit confluent cultured fibroblast cells from a skin biopsy from another laboratory. Cultured cells from a prenatal specimen will not be accepted.

Specimen Stability Information: Ambient (preferred)/Refrigerated (<24 hours)

Additional Information: A separate culture charge will be assessed under FIBR / Fibroblast Culture, Tissue. An additional 4 weeks is required to culture fibroblasts before genetic testing can occur.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing  (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Molecular Genetics Hereditary Hearing Loss Patient Information in Special Instructions. 

3. Targeted Genes and Methodology Details for the Hereditary Hearing Loss Panel in Special Instructions.

4. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

3 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

  All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Varies Varies (preferred)

Useful For
Suggests clinical disorders or settings where the test may be helpful

Establishing a diagnosis of a syndromic or nonsyndromic hereditary hearing loss disorder

 

Identifying variants within genes known to be associated with hereditary hearing loss, allowing for predictive testing of at-risk family members

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

Hereditary hearing loss is a genetically heterogeneous condition that can be either syndromic or nonsyndromic in origin.

 

This panel evaluates 160 genes related to both syndromic and nonsyndromic hereditary hearing loss.

 

The following genes are investigated in this panel test: ABHD12, ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, ATP6V1B1, BCS1L, BDP1, BSND, BTD, CABP2, CACNA1D, CATSPER2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CEP78, CHD7, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, CRYM, DCDC2, DFNA5 (GSDME), DIABLO, DIAPH1, DIAPH3, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR2, FLNA, FOXC1, FOXI1, GATA3, GIPC3, GJB2, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, HARS2, HGF, HOMER2, HOXA2, HSD17B4, ILDR1, JAG1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MCM2, MET, MIR96, MITF, MSRB3, MT-RNR1, MT-TS1, MYH14, MYH9, MYO3A, MYO6, MYO7A, MYO15A, NARS2, NF2, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PEX1, PEX6, PHYH, PJVK, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, PTPN11, PTPRQ, RDX, RIPOR2, S1PR2, SERPINB6, SIX1, SLC17A8, SLC22A4, SLC26A4, SLC26A5, SLC52A2, SLC52A3, SLITRK6, SMPX, SNAI2, SOX10, STRC, SYNE4, TBC1D24, TCOF1, TECTA, TIMM8A, TJP2, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TWNK, USH1C, USH1G, USH2A, WBP2, WFS1, and WHRN

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

If skin biopsy is received, fibroblast culture and cryopreservation for biochemical studies will be added at an additional charge.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Hereditary hearing loss encompasses a heterogeneous group of syndromic and nonsyndromic conditions. A comprehensive diagnostic genetic test is useful to help determine a molecular etiology for hearing loss and, therefore, identify other organ systems that may be involved, establish long-term prognosis, and ascertain the inheritance pattern and recurrence risk within a family.

 

Individuals with syndromic hearing loss typically have involvement of other organs or organ systems and may have malformations of the external ear. Individuals with nonsyndromic hearing loss may have abnormalities of the middle ear and/or inner ear but typically do not have visible abnormalities of the external ear and often do not have additional organ system involvement or other related medical problems.

 

Approximately 50% of individuals with hearing loss have a genetic etiology that can be identified. Of those, approximately 70% of individuals have a nonsyndromic condition, and the remaining 30% have 1 of over 400 syndromes involving hearing loss. Of the individuals with nonsyndromic hearing loss, at least three-quarters have an autosomal recessive condition, approximately 25% of whom have variants in the GJB2 or GJB6 genes.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

Variant curation is performed using published American College of Medical Genetics and Genomics and the Association for Molecular Pathology recommendations as a guideline.(1) Other gene-specific guidelines may also be considered. Variants are classified based on known, predicted, or possible pathogenicity, and reported with interpretive comments detailing their potential or known significance.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Clinical Correlations:

Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.

 

If testing was performed because of a clinically significant family history, it is often useful to first test an affected family member. Detection of at least one reportable variant in an affected family member would allow for more informative testing of at-risk individuals.

 

To discuss the availability of additional testing options or for assistance in the interpretation of these results, contact the Mayo Clinic Laboratory genetic counselors at 800-533-1710.

 

Technical Limitations:

Next-generation sequencing may not detect all types of genomic variants. In rare cases, false-negative or false- positive results may occur. The depth of coverage may be variable for some target regions, but assay performance below the minimum acceptable criteria or for failed regions will be noted. Given these limitations, negative results do not rule out the diagnosis of a genetic disorder. Additionally, low level mosaic variants may not be detected. If a specific clinical disorder is suspected, evaluation by alternative methods can be considered.

 

If the patient has had an allogeneic hematopoietic stem cell transplant or a recent heterologous blood transfusion, these results may be inaccurate due to the presence of donor DNA.

 

There may be regions of genes that cannot be effectively amplified for sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. Confirmation of select reportable variants will be performed by alternate methodologies based on internal laboratory criteria.

 

Of note, absence of the mitochondrial variants MT-RNR1 m.1494C>T, MT-RNR1 m.1555A>G, or MT-TS1 m.7445A>G on the report does not rule out the presence of these variants below the limits of detection of this assay (<5% heteroplasmy).

 

This test is not designed to differentiate between somatic and germline variants. If there is a possibility that any detected variant is somatic, additional testing may be necessary to clarify the significance of results.

 

Reclassification of Variants Policy:

At this time, it is not standard practice for the laboratory to systematically review previously classified variants on a regular basis. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.

 

Variant Evaluation:

Evaluation and categorization of variants is performed using published American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) recommendations as a guideline.(1) Other gene-specific guidelines may also be considered. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance. Variants classified as benign or likely benign are not reported.

 

Multiple in silico evaluation tools may be used to assist in the interpretation of these results. The accuracy of predictions made by in silico evaluation tools is highly dependent upon the data available for a given gene, and periodic updates to these tools may cause predictions to change over time. Results from in silico evaluation tools should be interpreted with caution and professional clinical judgment.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424

2. Alford R, Arnos K, Fox M, et al: American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. Genet Med. 2014 Apr;16(4):347-355

3. DiStefano MT, Hemphill SE, Oza AM, et al: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 2019 Oct;21(10):2239-2247

4. Oza AM, DiStefano MT, Hemphill SE, et al: Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018 Nov;39(11):1593-1613

5. Shearer AE, Hildebrand MS, Smith RJH: Hereditary hearing loss and deafness overview. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 1999. Updated July 27, 2017. Accessed September 15, 2020. Available at www.ncbi.nlm.nih.gov/books/NBK1434/

6. Sloan-Heggen CM, Bierer AO, Shearer AE, et al: Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet. 2016 Apr;135(4):441-450

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

Next-generation sequencing (NGS) and/or Sanger sequencing is performed to test for the presence of a sequence variant in all genes analyzed. Additionally, digital droplet polymerase chain reaction (ddPCR) is performed to test for 3 mitochondrial variants included in this panel.

 

Finally, NGS or multiplex ligation-dependent probe amplification (MLPA) is used to test for the presence of large deletions and duplications in the majority of genes. There may be regions of genes that cannot be effectively amplified for sequencing or large deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC)-rich content, and repetitive sequences. MLPA, PCR, qPCR, array comparative genomic hybridization (aCGH) or Sanger sequencing may be used to confirm alterations detected by NGS when appropriate.(Unpublished Mayo method)

 

Genes analyzed: ABHD12, ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, ATP6V1B1, BCS1L, BDP1, BSND, BTD, CABP2, CACNA1D, CATSPER2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CEP78, CHD7, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, CRYM, DCDC2, DFNA5 (GSDME), DIABLO, DIAPH1, DIAPH3, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR2, FLNA, FOXC1, FOXI1, GATA3, GIPC3, GJB2, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, HARS2, HGF, HOMER2, HOXA2, HSD17B4, ILDR1, JAG1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MCM2, MET, MIR96, MITF, MSRB3, MT-RNR1, MT-TS1, MYH14, MYH9, MYO3A, MYO6, MYO7A, MYO15A, NARS2, NF2, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PEX1, PEX6, PHYH, PJVK, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, PTPN11, PTPRQ, RDX, RIPOR2, S1PR2, SERPINB6, SIX1, SLC17A8, SLC22A4, SLC26A4, SLC26A5, SLC52A2, SLC52A3, SLITRK6, SMPX, SNAI2, SOX10, STRC, SYNE4, TBC1D24, TCOF1, TECTA, TIMM8A, TJP2, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TWNK, USH1C, USH1G, USH2A, WBP2, WFS1, and WHRN

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

Supplemental

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Weekly

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

10 to 12 weeks

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Whole Blood: 2 weeks (if available) Extracted DNA: Indefinitely

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

81430

81431

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
HHLP Hereditary Hearing Loss Panel In Process
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
606159 Test Description 62364-5
608470 Specimen 31208-2
608471 Source 31208-2
608465 Result Summary 50397-9
608466 Result 82939-0
608467 Interpretation 69047-9
606160 Resources 99622-3
608468 Additional Information 48767-8
608469 Method 85069-3
606161 Genes Analyzed 48018-6
608473 Disclaimer 62364-5
608472 Released By 18771-6

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Create a PDF

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports