TEST CATALOG ORDERING & RESULTS SPECIMEN HANDLING CUSTOMER SERVICE EDUCATION & INSIGHTS
Test Catalog

Test ID: HHLP    
AudioloGene Hereditary Hearing Loss Panel, Varies

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genomic hybridization (aCGH) or Sanger sequencing may be used to confirm alterations detected by NGS when appropriate.(Unpublished Mayo method)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