Hereditary Hearing Loss and Deafness Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesGene CPT Codes Copy CPT Codes
5063 A2ML181479,81479 Add to Order
ABHD1281479,81479
ACTB81479,81479
ACTG181479,81479
ADCY181479,81479
ADGRV181479,81479
AIFM181479,81479
ALMS181479,81479
AP1B181479,81479
ARSG81479,81479
ASIC581479,81479
ATP1A381479,81479
ATP2B281479,81479
ATP6V1B181479,81479
BCS1L81405,81479
BDP181479,81479
BSND81479,81479
CABP281479,81479
CACNA1D81479,81479
CATSPER281479,81479
CCDC5081479,81479
CD16481479,81479
CDC14A81479,81479
CDH2381408,81479
CEACAM1681479,81479
CEP25081479,81479
CEP7881479,81479
CHD781407,81479
CIB281479,81479
CISD281479,81479
CLDN1481479,81479
CLDN981479,81479
CLIC581479,81479
CLPP81479,81479
CLRN181404,81479
COCH81479,81479
COL11A181479,81479
COL11A281479,81479
COL1A181408,81479
COL2A181479,81479
COL4A381408,81479
COL4A481407,81479
COL4A581408,81407
COL4A681479,81479
COL9A181479,81479
COL9A281479,81479
CRYL181479,81479
CRYM81479,81479
DCDC281479,81479
DIABLO81479,81479
DIAPH181479,81479
DIAPH381479,81479
DMXL281479,81479
DNAJC381479,81479
DSPP81479,81479
DTNA81479,81479
EDN381479,81479
EDNRB81479,81479
ELMOD381479,81479
EPS881479,81479
EPS8L281479,81479
ERAL181479,81479
ESPN81479,81479
ESRRB81479,81479
EYA181406,81405
EYA481479,81479
FAM136A81479,81479
FDXR81479,81479
FGF381479,81479
FGFR381479,81479
FITM281479,81479
FOXI181479,81479
GATA381479,81479
GIPC381479,81479
GJB281252,81479
GJB381479,81479
GJB681479,81479
GPRASP281479,81479
GPSM281479,81479
GRAP81479,81479
GREB1L81479,81479
GRHL281479,81479
GRXCR181479,81479
GRXCR281479,81479
GSDME81479,81479
HARS81479,81479
HARS281479,81479
HGF81479,81479
HOMER281479,81479
HOXA281479,81479
HSD17B481479,81479
IFNLR181479,81479
ILDR181479,81479
KARS181479,81479
KCNE181479,81479
KCNJ1081404,81479
KCNQ181406,81479
KCNQ481479,81479
KITLG81479,81479
LARS281479,81479
LHFPL581479,81479
LMX1A81479,81479
LOXHD181479,81479
LRTOMT81479,81479
MAFB81479,81479
MARVELD281479,81479
MCM281479,81479
MEPE81479,81479
MET81479,81479
MIR9681479,81479
MITF81479,81479
MPZL281479,81479
MRPS281479,81479
MSRB381479,81479
MYH1481479,81479
MYH981479,81479
MYO15A81479,81479
MYO3A81479,81479
MYO681479,81479
MYO7A81407,81479
NARS281479,81479
NDP81404,81403
NLRP381479,81479
NOG81479,81479
OPA181407,81406
OSBPL281479,81479
OTOA81479,81479
OTOF81479,81479
OTOG81479,81479
OTOGL81479,81479
P2RX281479,81479
PAX381479,81479
PCDH1581407,81406
PDE1C81479,81479
PDZD781479,81479
PEX181479,81479
PEX681479,81479
PJVK81405,81479
PLS181479,81479
PLS381479,81479
PNPT181479,81479
POLR1C81479,81479
POLR1D81479,81479
POU3F481479,81479
POU4F381479,81479
PRKCB81479,81479
PRPS181479,81479
PTPRQ81479,81479
RAI181405,81479
RDX81479,81479
REEP681479,81479
REST81479,81479
RIPOR281479,81479
ROR181479,81479
S1PR281479,81479
SEMA3E81479,81479
SERPINB681479,81479
SIX181479,81479
SIX281479,81479
SIX581479,81479
SLC17A881479,81479
SLC22A481479,81479
SLC26A481406,81479
SLC26A581479,81479
SLC44A481479,81479
SLC52A281479,81479
SLC52A381479,81479
SLC9A181479,81479
SLITRK681479,81479
SMPX81479,81479
SNAI281479,81479
SOX1081479,81479
SPNS281479,81479
STRC81479,81479
SYNE481479,81479
TBC1D2481479,81479
TBX181479,81479
TCOF181479,81479
TECTA81479,81479
TIMM8A81479,81479
TJP281479,81479
TMC181479,81479
TMEM126A81479,81479
TMEM132E81479,81479
TMIE81479,81479
TMPRSS381479,81479
TNC81479,81479
TPRN81479,81479
TRIOBP81479,81479
TRMT10C81479,81479
TRRAP81479,81479
TSHZ181479,81479
TSPEAR81479,81479
TUBB4B81479,81479
TWNK81404,81479
USH1C81407,81479
USH1G81404,81479
USH2A81408,81479
WBP281479,81479
WFS181479,81479
WHRN81479,81479
XYLT281479,81479
Test Code Test Copy Genes Total Price Panel CPT Code Gene CPT Codes Copy CPT Code STAT
5063 Genes x (202) $1290 81479 81252, 81403, 81404, 81405, 81406, 81407, 81408, 81479 Add to Order

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

For Reflex to PGxome pricing click here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics of Hereditary Hearing Loss

Clinical Features

Hearing loss (HL) or deafness is the most common sensory deficit in humans, affecting an estimated 5% of the world's population. HL may be caused by environmental or genetic factors (Azaiez et al. 2018. PubMed ID: 30245029). Hereditary hearing loss and deafness (HHLD) is classified by type (conductive, sensorineural or mixed), age at onset (congenital, pre-lingual, post-lingual or age-related), audiological characteristics (severity and affected frequencies), associated clinical features (syndromic or nonsyndromic), and mode of inheritance (autosomal dominant, autosomal recessive, X-linked or mitochondrial).

Molecular genetic testing is possible for many types of HHLD, and plays a prominent role in diagnosis and genetic counseling (Hilgert et al. 2009. PubMed ID: 18804553; Shearer and Smith. 2012. PubMed ID: 23042251; Shearer et al. 2017. PubMed ID: 20301607; Smith et al. 2005. PubMed ID: 15752533).

Genetics

This comprehensive panel consists of genes that have been associated with all types of HHLD. Importantly, both syndromic and nonsyndromic HL genes are included in this panel due the variable or mild features associated with some syndromic HL genes.

In developed countries, HL is primarily caused by genetic factors and is nonsyndromic (Sloan-Heggen et al. 2016. PubMed ID: 26969326). The majority of HHLD is monogenic, with the exception of age-related HL typically being a complex genetic disorder (Azaiez et al. 2018. PubMed ID: 30245029). Congenital or pre-lingual HL is 80% genetic as compared to 20% acquired or environmental. Of pre-lingual genetic HL, 20% is syndromic and 80% nonsyndromic. Of pre-lingual genetic nonsyndromic hearing loss (NSHL), 80% is recessive, 19% is dominant, and the remainder is X-linked or mitochondrial (Shearer et al. 2017. PubMed ID: 20301607). To our knowledge, although de novo variants causing hearing loss have been documented, they are not a common cause of disease for the genes in this panel.

The gene most commonly associated with NSHL is GJB2 (also known as connexin 26), which accounts for 50% of congenital severe-to-profound autosomal recessive NSHL cases (Smith et al. 2016. PubMed ID: 20301449). The most prevalent pathogenic GJB2 variant is c.35delG, having a global population frequency of 0.62%, and a frequency of 0.96% in European populations (gnomAD population database).

The most common types of syndromic HL are Usher, Waardenburg and Pendred syndromes (Koffler et al. 2015. PubMed ID: 26443487). Other less common syndromic causes of HL are also included in this panel (Perrault, Treacher Collins, Stickler, Jervell and Lange-Nielsen, branchio-oto-renal (BOR), Wolfram, Heimler, and Alport syndromes).

Copy number variant (CNV) detection is an important component of clinical genetic testing for HHLD, with CNVs contributing 18.7% of all positive genetic diagnoses in a large cohort of NSHL patients. The majority of CNVs detected in this study were in two genes: STRC (73%) and OTOA (13%). The carrier frequency of STRC CNVs was estimated at 1.1-1.6% in individuals without HL, indicating that STRC CNVs may be an equal or potentially larger contributor to autosomal recessive NSHL than GJB2 in some populations (Shearer et al. 2014. PubMed ID: 24963352). STRC CNVs often include the nearby CATSPER2 gene. Although CATSPER2 is not known to directly cause hearing loss, it is included in this panel because together with STRC these two genes are associated with deafness-infertility syndrome. This test is able to detect CNVs in STRC, CATSPER2, and OTOA.

This panel also includes syndromic causes of HL affecting the external structure of the ear such as microtia (HOXA2) and aural atresia (TSHZ1). Genes with hearing loss as an early occurring feature (FITM2) and genes with new or rarely reported associations with HL are also included (DE1C, DMXL2, GRAP, IFNLR1, MAFB, MPZL2, REST, TMEM126A, TRRAP, SLC44A4, NOG, PLS1, REEP6). Recent additions are AP1B1, ASIC5, CLDN9, and TBX1.

In a study of 1,119 individuals with any type of hearing loss, 82% of positive diagnoses were due to 15 genes (GJB2, STRC, SLC26A4, TECTA, MYO15A, MYO7A, USH2A, CDH23, ADCRV1, TMC1, PCDH15, OTOF, TMPRSS3, LOXHD1, and OTOA) (Sloan-Heggen et al. 2016. PubMed ID: 26969326).

See individual gene summaries for detailed information about molecular biology of gene products and spectra of pathogenic variants.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 97.2% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

Paralogous regions of the genome exhibit high levels of sequence similarity to one or more additional genomic regions. Inherent limitations of short-read based NGS technology reduces coverage of paralogous regions via low read mapping quality scores. Reduced coverage may result in reduced ability to detect sequence variants or CNVs in paralogous regions.

In this panel, the genes with substantial paralogy and the coverage we are able to obtain for sequence variant detection via NGS are: STRC (52.8%), CATSPER2 (97.8%), and OTOA (76.1%). Despite high paralogy, we are able to detect large deletions and duplications via NGS based CNV analysis in these three genes. Long-range PCR assays designed with appropriate paralogy considerations and ability to detect gene/pseudogene conversions are used to confirm sequence variants in these genes. MLPA is used to confirm all CNVs originally detected via NGS for these high paralogy genes.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Clinical Sensitivity - Sequencing with CNV

Clinical sensitivity of similar panels has been reported to be 33-40% overall, but can be as low as 1% in patients with unilateral hearing loss and as high as 72% in patients of Middle Eastern ethnicity (Shearer et al. 2014. PubMed ID: 24963352; Sloan-Heggen et al. 2016. PubMed ID: 26969326; Zazo Seco et al. 2017. PubMed ID: 28000701; Azaiez et al. 2018. PubMed ID: 30245029).

Indications for Test

This test is indicated for patients with any type of hearing loss of potentially genetic etiology, either syndromic or nonsyndromic, and with any mode of inheritance.

Genes

Official Gene Symbol OMIM ID
A2ML1 610627
ABHD12 613599
ACTB 102630
ACTG1 102560
ADCY1 103072
ADGRV1 602851
AIFM1 300169
ALMS1 606844
AP1B1 600157
ARSG 610008
ASIC5 616693
ATP1A3 182350
ATP2B2 108733
ATP6V1B1 192132
BCS1L 603647
BDP1 607012
BSND 606412
CABP2 607314
CACNA1D 114206
CATSPER2 607249
CCDC50 611051
CD164 603356
CDC14A 603504
CDH23 605516
CEACAM16 614591
CEP250 609689
CEP78 617110
CHD7 608892
CIB2 605564
CISD2 611507
CLDN14 605608
CLDN9 0
CLIC5 607293
CLPP 601119
CLRN1 606397
COCH 603196
COL11A1 120280
COL11A2 120290
COL1A1 120150
COL2A1 120140
COL4A3 120070
COL4A4 120131
COL4A5 303630
COL4A6 303631
COL9A1 120210
COL9A2 120260
CRYL1 609877
CRYM 123740
DCDC2 605755
DIABLO 605219
DIAPH1 602121
DIAPH3 614567
DMXL2 612186
DNAJC3 601184
DSPP 125485
DTNA 601239
EDN3 131242
EDNRB 131244
ELMOD3 615427
EPS8 600206
EPS8L2 614988
ERAL1 607435
ESPN 606351
ESRRB 602167
EYA1 601653
EYA4 603550
FAM136A 616275
FDXR 103270
FGF3 164950
FGFR3 134934
FITM2 612029
FOXI1 601093
GATA3 131320
GIPC3 608792
GJB2 121011
GJB3 603324
GJB6 604418
GPRASP2 300969
GPSM2 609245
GRAP 604330
GREB1L 617782
GRHL2 608576
GRXCR1 613283
GRXCR2 615762
GSDME 608798
HARS 142810
HARS2 600783
HGF 142409
HOMER2 604799
HOXA2 604685
HSD17B4 601860
IFNLR1 607404
ILDR1 609739
KARS1 601421
KCNE1 176261
KCNJ10 602208
KCNQ1 607542
KCNQ4 603537
KITLG 184745
LARS2 604544
LHFPL5 609427
LMX1A 600298
LOXHD1 613072
LRTOMT 612414
MAFB 608968
MARVELD2 610572
MCM2 116945
MEPE 605912
MET 164860
MIR96 611606
MITF 156845
MPZL2 604873
MRPS2 611971
MSRB3 613719
MYH14 608568
MYH9 160775
MYO15A 602666
MYO3A 606808
MYO6 600970
MYO7A 276903
NARS2 612803
NDP 300658
NLRP3 606416
NOG 602991
OPA1 605290
OSBPL2 606731
OTOA 607038
OTOF 603681
OTOG 604487
OTOGL 614925
P2RX2 600844
PAX3 606597
PCDH15 605514
PDE1C 602987
PDZD7 612971
PEX1 602136
PEX6 601498
PJVK 610219
PLS1 602734
PLS3 300131
PNPT1 610316
POLR1C 610060
POLR1D 613715
POU3F4 300039
POU4F3 602460
PRKCB 176970
PRPS1 311850
PTPRQ 603317
RAI1 607642
RDX 179410
REEP6 609346
REST 600571
RIPOR2 611410
ROR1 602336
S1PR2 605111
SEMA3E 608166
SERPINB6 173321
SIX1 601205
SIX2 604994
SIX5 600963
SLC17A8 607557
SLC22A4 604190
SLC26A4 605646
SLC26A5 604943
SLC44A4 606107
SLC52A2 607882
SLC52A3 613350
SLC9A1 107310
SLITRK6 609681
SMPX 300226
SNAI2 602150
SOX10 602229
SPNS2 612584
STRC 606440
SYNE4 615535
TBC1D24 613577
TBX1 602054
TCOF1 606847
TECTA 602574
TIMM8A 300356
TJP2 607709
TMC1 606706
TMEM126A 612988
TMEM132E 616178
TMIE 607237
TMPRSS3 605511
TNC 187380
TPRN 613354
TRIOBP 609761
TRMT10C 615423
TRRAP 603015
TSHZ1 614427
TSPEAR 612920
TUBB4B 602660
TWNK 606075
USH1C 605242
USH1G 607696
USH2A 608400
WBP2 606962
WFS1 606201
WHRN 607928
XYLT2 608125
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
ABCD Syndrome AR 600501
Achondrogenesis Type 2 AD 200610
Achondroplasia AD 100800
Albinism, Ocular, With Sensorineural Deafness AD 103470
Alport Syndrome, Autosomal Dominant AD 104200
Alport Syndrome, Autosomal Recessive AR 203780
Alport Syndrome, X-Linked Recessive XL 301050
Alstrom Syndrome AR 203800
Alternating Hemiplegia of Childhood 2 AD 614820
Arts Syndrome XL 301835
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus AR 616192
Atrial Fibrillation, Familial, 3 AD 607554
Auditory neuropathy and optic atrophy AR 617717
Auditory neuropathy, autosomal dominant, 1 AD 609129
Aural atresia, congenital AD 607842
Avascular Necrosis Of Femoral Head, Primary AD 608805
Baraitser-Winter Syndrome 1 AD 243310
Baraitser-Winter Syndrome 2 AD 614583
Barakat Syndrome AD 146255
Bartter Syndrome Type 4 AR 602522
Behr Syndrome AR 210000
Benign Familial Hematuria AD 141200
Bjornstad Syndrome AR 262000
Bladder Cancer 109800
Bone Mineral Density QTL18, Osteoporosis XL 300910
Brachydactyly, Type B2 AD 611377
Branchiootic syndrome 1 AD 602588
Branchiootic Syndrome 3 AD 608389
Branchiootorenal Syndrome 1, with or without Cataracts AD 113650
Branchiootorenal Syndrome 2 610896
Brown-Vialetto-Van Laere Syndrome AR 211530
Brown-Vialetto-Van Laere syndrome 2 AR 614707
Caffey Disease AD 114000
Camptodactyly, Tall Stature, And Hearing Loss Syndrome AD 610474
CAPOS syndrome AD 601338
Cataract 41 AD 116400
Cervical Cancer 603956
Charcot-Marie-Tooth disease, axonal, type 2W AD 616625
Charcot-Marie-Tooth Disease, Recessive Intermediate B AR 613641
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5 XL 311070
CHARGE Association AD 214800
Cholestasis, Progressive Familial Intrahepatic 4 AR 615878
Chronic Infantile Neurological, Cutaneous And Articular Syndrome AD 607115
Chudley-McCullough syndrome AR 604213
Combined Oxidative Phosphorylation Deficiency 13 AR 614932
Combined Oxidative Phosphorylation Deficiency 24 AR 616239
Combined Oxidative Phosphorylation Deficiency 30 AR 616974
Combined oxidative phosphorylation deficiency 36 AR 617950
Combined Oxidative Phosphorylation Deficiency 6 XL 300816
COMMAD syndrome AR 617306
Cone-Rod Dystrophy and Hearing Loss AR 617236
Cone-rod dystrophy and hearing loss 2 AR 618358
Congenital Central Hypoventilation syndrome AD 209880
Conotruncal Heart Malformations 217095
Corneal dystrophy, posterior polymorphous, 4 AD 618031
Cowchock Syndrome XL 310490
Craniofacial Deafness Hand Syndrome AD 122880
Crouzon Syndrome With Acanthosis Nigricans AD 612247
Cushing's Symphalangism AD 185800
Czech Dysplasia Metatarsal Type AD 609162
D-Bifunctional Protein Deficiency AR 261515
Deafness , autosomal recessive 86 AR 614617
Deafness and myopia AR 221200
Deafness autosomal recessive 106 AR 617637
Deafness With Labyrinthine Aplasia Microtia And Microdontia (Lamm) AR 610706
Deafness, Autosomal Dominant 1 AD 124900
Deafness, Autosomal Dominant 10 AD 601316
Deafness, Autosomal Dominant 11 AD 601317
Deafness, Autosomal Dominant 12 AD 601543
Deafness, Autosomal Dominant 13 AD 601868
Deafness, Autosomal Dominant 15 AD 602459
Deafness, Autosomal Dominant 17 AD 603622
Deafness, Autosomal Dominant 20 AD 604717
Deafness, Autosomal Dominant 22 AD 606346
Deafness, Autosomal Dominant 23 AD 605192
Deafness, Autosomal Dominant 25 AD 605583
Deafness, autosomal dominant 27 AD 612431
Deafness, Autosomal Dominant 28 AD 608641
Deafness, Autosomal Dominant 2A AD 600101
Deafness, Autosomal Dominant 2B AD 612644
Deafness, autosomal dominant 34, with or without inflammation AD 617772
Deafness, Autosomal Dominant 36 AD 606705
Deafness, autosomal dominant 37 618533
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 AD 605594
Deafness, Autosomal Dominant 3A AD 601544
Deafness, Autosomal Dominant 3B AD 612643
Deafness, Autosomal Dominant 4 AD 600652
Deafness, Autosomal Dominant 40 AD 616357
Deafness, autosomal dominant 41 AD 608224
Deafness, Autosomal Dominant 44 AD 607453
Deafness, Autosomal Dominant 4B AD 614614
Deafness, Autosomal Dominant 5 AD 600994
Deafness, Autosomal Dominant 50 AD 613074
Deafness, autosomal dominant 56 AD 615629
Deafness, Autosomal Dominant 6 AD 600965
Deafness, Autosomal Dominant 64 AD 614152
Deafness, autosomal dominant 65 AD 616044
Deafness, autosomal dominant 66 AD 616969
Deafness, autosomal dominant 67 AD 616340
Deafness, autosomal dominant 68 AD 616707
Deafness, Autosomal Dominant 69 AD 616697
Deafness, autosomal dominant 70 AD 616968
Deafness, autosomal dominant 71 AD 617605
Deafness, autosomal dominant 72 AD 617606
Deafness, autosomal dominant 73 AD 617663
Deafness, autosomal dominant 74 AD 618140
Deafness, Autosomal Dominant 9 AD 601369
Deafness, autosomal recessive 101 AR 615837
Deafness, autosomal recessive 102 AR 615974
Deafness, autosomal recessive 103 AR 616042
Deafness, autosomal recessive 104 AR 616515
Deafness, autosomal recessive 105 AR 616958
Deafness, autosomal recessive 107 AR 617639
Deafness, autosomal recessive 108 AR 617654
Deafness, autosomal recessive 110 AR 618094
Deafness, autosomal recessive 111 AR 618145
Deafness, autosomal recessive 112 AR 618257
Deafness, autosomal recessive 113 AR 618410
Deafness, autosomal recessive 114 AR 618456
Deafness, autosomal recessive 115 AR 618457
Deafness, Autosomal Recessive 12 AR 601386
Deafness, Autosomal Recessive 15 AR 601869
Deafness, Autosomal Recessive 16 AR 603720
Deafness, Autosomal Recessive 18 AR 602092
Deafness, autosomal recessive 18B AR 614945
Deafness, Autosomal Recessive 1A AR 220290
Deafness, Autosomal Recessive 1B AR 612645
Deafness, Autosomal Recessive 2 AR 600060
Deafness, Autosomal Recessive 21 AR 603629
Deafness, Autosomal Recessive 22 AR 607039
Deafness, Autosomal Recessive 23 AR 609533
Deafness, Autosomal Recessive 24 AR 611022
Deafness, Autosomal Recessive 25 AR 613285
Deafness, Autosomal Recessive 28 AR 609823
Deafness, Autosomal Recessive 29 AR 614035
Deafness, Autosomal Recessive 3 AR 600316
Deafness, Autosomal Recessive 30 AR 607101
Deafness, Autosomal Recessive 31 AR 607084
Deafness, autosomal recessive 32, with or without immotile sperm AR 608653
Deafness, Autosomal Recessive 35 AR 608565
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement AR 609006
Deafness, Autosomal Recessive 37 AR 607821
Deafness, Autosomal Recessive 39 AR 608265
Deafness, Autosomal Recessive 42 AR 609646
Deafness, autosomal recessive 44 AR 610154
Deafness, Autosomal Recessive 48 AR 609439
Deafness, Autosomal Recessive 49 AR 610153
Deafness, Autosomal Recessive 53 AR 609706
Deafness, autosomal recessive 57 AR 618003
Deafness, Autosomal Recessive 59 AR 610220
Deafness, Autosomal Recessive 6 AR 600971
Deafness, Autosomal Recessive 61 AR 613865
Deafness, Autosomal Recessive 63 AR 611451
Deafness, autosomal recessive 66 AR 610212
Deafness, Autosomal Recessive 67 AR 610265
Deafness, autosomal recessive 68 AR 610419
Deafness, Autosomal Recessive 7 AR 600974
Deafness, autosomal recessive 70 AR 614934
Deafness, Autosomal Recessive 74 AR 613718
Deafness, autosomal recessive 76 AR 615540
Deafness, Autosomal Recessive 77 AR 613079
Deafness, Autosomal Recessive 79 AR 613307
Deafness, Autosomal Recessive 8/10 AR 601072
Deafness, Autosomal Recessive 84 AR 613391
Deafness, autosomal recessive 84B AR 614944
Deafness, autosomal recessive 88 AR 615429
Deafness, autosomal recessive 89 AR 613916
Deafness, Autosomal Recessive 9 AR 601071
Deafness, Autosomal Recessive 91 AR 613453
Deafness, autosomal recessive 93 AR 614899
Deafness, autosomal recessive 94 AR 618434
Deafness, autosomal recessive 97 AR 616705
Deafness, autosomal recessive 98 AR 614861
Deafness, autosomal recessive 99 AR 618481
Deafness, X-Linked 1 XL 304500
Deafness, X-Linked 2 XL 304400
Deafness, X-Linked 4 XL 300066
Deafness, X-Linked 5 XL 300614
Deafness, X-linked 6 XL 300914
Deafness, X-linked 7 XL 301018
Denticles AD 125420
Dentinogenesis Imperfecta - Shield's Type II AD 125490
Dentinogenesis Imperfecta Shields Type 3 AD 125500
Developmental delay with or without dysmorphic facies and autism AD 618454
Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness AR 222300
Diabetes Mellitus, Noninsulin-Dependent AD 125853
Digeorge Sequence AD 188400
Dilated Cardiomyopathy 1J AD 605362
Dominant Hereditary Optic Atrophy AD 165500
DOOR syndrome AR 220500
Duane retraction syndrome 3 AD 617041
Dystonia 12 AD 128235
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis AR 618180
Ectodermal Dysplasia/Short Stature Syndrome AR 616029
Ehlers-Danlos Syndrome, Type VIIA and VIIB AD 130060
Enlarged Vestibular Aqueduct Syndrome AR 600791
Epidermal Nevus 162900
Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp AR 608105
Epileptic Encephalopathy, Early Infantile, 16 AR 615338
Epileptic encephalopathy, early infantile, 81 AR 618663
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness AD 132450
Erythrokeratodermia Variabilis Et Progressiva AD 133200
Exudative Vitreoretinopathy 2, X-Linked 305390
Fallot Tetralogy AD 187500
Familial Amyloid Nephropathy With Urticaria And Deafness AD 191900
Familial Cold Urticaria AD 120100
Familial Colorectal Cancer 114500
Fazio-Londe Disease AR 211500
Febrile Seizures, Familial, 4 AD 604352
Fibrochondrogenesis AR 228520
Fibrochondrogenesis 2 AD 614524
Fibromatosis, gingival, 5 AD 617626
Glaucoma, Normal Tension, Susceptibility To 606657
GRACILE Syndrome AR 603358
Heimler syndrome 1 AR 234580
Heimler syndrome 2 AR 616617
Hidrotic Ectodermal Dysplasia Syndrome AD 129500
Hirschsprung Disease 2 AD 600155
Hirschsprung Disease 4 AD 613712
Hydrops, lactic acidosis, and sideroblastic anemia AR 617021
Hypercholanemia, Familial AR 607748
Hyperpigmentation with or without Hypopigmentation AD 145250
Hypochondroplasia AD 146000
Ichthyosis, Hystrix-Like, With Deafness AD 602540
Intervertebral Disc Disorder 603932
Jervell And Lange-Nielsen Syndrome 2 AR 612347
Jervell And Lange-Nielson Syndrome AR 220400
Juvenile-Onset Dystonia AD 607371
Kallmann Syndrome 5 AD 612370
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant AD 148210
Keratitis-ichthyosis-deafness syndrome, autosomal recessive AR 242150
Keratoderma Palmoplantar Deafness AD 148350
Keratoendothelitis fugax hereditaria AD 148200
Klein-Waardenberg's Syndrome AD 148820
Kniest Dysplasia AD 156550
Knuckle Pads, Deafness And Leukonychia Syndrome AD 149200
Lacrimoauriculodentodigital Syndrome AD 149730
Leber congenital amaurosis with early-onset deafness AD 617879
Left Ventricular Noncompaction 1 AD 604169
Legg-Calve-Perthes Disease AD 150600
Leigh Syndrome AR 256000
Leukodystrophy, Hypomyelinating, 11 AR 616494
Lichtenstein-Knorr syndrome AR 616291
Liver Cancer 114550
Long QT Syndrome 1 AD 192500
Long QT Syndrome 5 AD 613695
Marshall Syndrome AD 154780
May-Hegglin Anomaly AD 155100
Melanoma, cutaneous malignant, susceptibility to, 8 614456
Microtia, Hearing Impairment, And Cleft Palate AD 612290
Mitochondrial Complex III Deficiency AR 124000
Mitochondrial DNA Depletion Syndrome 14 (Encephalocardiomyopathic Type) 616896
Mitochondrial DNA Depletion Syndrome 7 AR 271245
Mohr-Tranebjaerg Syndrome XL 304700
Muenke Syndrome AD 602849
Multicentric carpotarsal osteolysis syndrome AD 166300
Multiple Epiphyseal Dysplasia 2 AD 600204
Multiple Epiphyseal Dysplasia 6 AD 614135
Multiple Synostoses Syndrome 1 AD 186500
Myoclonic Epilepsy, Familial Infantile AR 605021
Nephronophthisis 19 AR 616217
Norrie Disease XL 310600
Occult Macular Dystrophy AD 613587
Optic Atrophy 7 AR 612989
Optic Atrophy Type 1 AD 125250
Osteoarthritis With Mild Chondrodysplasia AD 604864
Osteofibrous dysplasia, susceptibility to AD 607278
Osteogenesis Imperfecta Type III AD 259420
Osteogenesis Imperfecta, Type I AD 166200
Osteogenesis Imperfecta, Type II AD 166210
Osteogenesis Imperfecta, Type IV AD 166220
Osteogenesis Imperfecta, Type VI 613982
Osteoporosis AD 166710
Otitis media, susceptibility to AD 166760
Otofaciocervical Syndrome AD 166780
Otospondylomegaepiphyseal Dysplasia AR 215150
Partial Albinism AD 172800
Pendred Syndrome AR 274600
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease AD 609136
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss AD 614369
Peroxisome biogenesis disorder 1A (Zellweger) AR 214100
Peroxisome biogenesis disorder 1B (NALD/IRD) AR 601539
Peroxisome biogenesis disorder 4A (Zellweger) AR 614862
Peroxisome biogenesis disorder 4B AD 614863
Perrault Syndrome AR 233400
Perrault Syndrome 2 AR 614926
Perrault Syndrome 3 AR 614129
Perrault Syndrome 4 AR 615300
Perrault Syndrome 5 AR 616138
Perrault syndrome 6 AR 617565
Phosphoribosylpyrophosphate Synthetase Superactivity XL 300661
Pituitary adenoma 5, multiple types AD 617540
Platyspondylic Lethal Skeletal Dysplasia Torrance Type AD 151210
Polyendocrine-polyneuropathy syndrome AR 616113
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract AR 612674
Primary Aldosteronism, Seizures, and Neurologic Abnormalities AD 615474
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 3 AD 609286
Pseudoxanthoma Elasticum AR 264800
Renal Cell Carcinoma, Papillary, 1 605074
Renal Hypodysplasia/Aplasia 3 AD 617805
Renal Tubular Acidosis With Progressive Nerve Deafness AR 267300
Retinitis Pigmentosa 39 613809
Retinitis Pigmentosa 54 613428
Retinitis Pigmentosa 61 614180
Retinitis Pigmentosa 77 AR 617304
Rhabdomyosarcoma Alveolar 268220
Rheumatoid Arthritis 180300
SADDAN AD 616482
Sclerosing cholangitis, neonatal AR 617394
Seizures, Cortical Blindness, Microcephaly Syndrome AR 616632
SeSAME Syndrome AR 612780
Short QT Syndrome 2 AD 609621
Siddiqi syndrome AR 618635
Sinoatrial node dysfunction and deafness AR 614896
Skin/Hair/Eye Pigmentation, Variation In, 7 611664
Smith-Magenis Syndrome AD 182290
Spondyloepimetaphyseal Dysplasia Strudwick Type AD 184250
Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy XL 300232
Spondyloepiphyseal Dysplasia Congenita AD 183900
Spondyloepiphyseal Sysplasia, Stanescu Type AD 616583
Spondyloocular syndrome AR 605822
Spondyloperipheral Dysplasia AD 271700
Stapes Ankylosis With Broad Thumb And Toes AD 184460
Stickler Syndrome Type 1 AD 108300
Stickler Syndrome, Type 2 AD 604841
Stickler Syndrome, Type 3 AD 184840
Stickler Syndrome, Type 4 614134
Stickler Syndrome, Type 5 AR 614284
Stickler Syndrome, Type I, Nonsyndromic Ocular AD 609508
Tarsal Carpal Coalition Syndrome AD 186570
Testicular Cancer 273300
Thanatophoric Dysplasia Type 1 AD 187600
Thanatophoric Dysplasia Type 2 AD 187601
Tietz Syndrome AD 103500
Treacher Collins Syndrome AD 154500
Treacher Collins Syndrome 2 AD 613717
Treacher Collins syndrome 3 AR 248390
Usher Syndrome Type 3B AR 614504
Usher Syndrome, Type 1 AR 276900
Usher Syndrome, Type 1D AR 601067
Usher Syndrome, Type 1F AR 602083
Usher syndrome, type 1M AR 618632
Usher Syndrome, Type 2C AR 605472
Usher Syndrome, Type 2D AR 611383
Usher Syndrome, Type 3 AR 276902
Usher Syndrome, Type Ic AR 276904
Usher Syndrome, Type Ig AR 606943
Usher Syndrome, Type IIa AR 276901
Usher Syndrome, Type IJ AR 614869
Usher syndrome, type IV AR 618144
Velocardiofacial Syndrome AD 192430
Vohwinkel syndrome AD 124500
Waardenburg Syndrome Type 1 AD 193500
Waardenburg Syndrome, Type 2A AD 193510
Waardenburg Syndrome, Type 2D AR 608890
Waardenburg Syndrome, Type 2E AD 611584
Waardenburg Syndrome, Type 4A AD 277580
Waardenburg Syndrome, Type 4B AD 613265
Waardenburg Syndrome, Type 4C AD 613266
Wilms Tumor 6, Susceptibility to 616806
Wolfram Syndrome 2 AR 604928
Wolfram-Like Syndrome, Autosomal Dominant AD 614296

Related Test

Name
PGxome®

Citations

  • Azaiez et al. 2018. PubMed ID: 30245029
  • Hilgert et al. 2009. PubMed ID: 18804553
  • Koffler et al. 2015. PubMed ID: 26443487
  • Shearer and Smith. 2012. PubMed ID: 23042251
  • Shearer et al. 2014. PubMed ID: 24963352
  • Shearer et al. 2017. PubMed ID: 20301607
  • Sloan-Heggen et al. 2016. PubMed ID: 26969326
  • Smith et al. 2005. PubMed ID: 15752533
  • Smith et al. 2016. PubMed ID: 20301449
  • Zazo Seco et al. 2017. PubMed ID: 28000701

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