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Anterior Segment Dysgenesis Disorders Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
12003 ABCB6 81479,81479 Order Options and Pricing
ABHD12 81479,81479
ACTB 81479,81479
ACVR1 81479,81479
ACVR1C 81479,81479
ADAMTS10 81479,81479
ADAMTS18 81479,81479
AGBL1 81479,81479
AGK 81479,81479
AGPS 81479,81479
AKAP14 81479,81479
ALDH18A1 81479,81479
ALDH1A3 81479,81479
ALPL 81479,81479
ASPH 81479,81479
ATOH7 81479,81479
B3GLCT 81479,81479
BCOR 81479,81479
BEST1 81406,81479
BFSP1 81479,81479
BFSP2 81479,81479
BMP4 81479,81479
BMP7 81479,81479
C12orf57 81479,81479
CA4 81479,81479
CANT1 81479,81479
CAPN15 81479,81479
CAV1 81479,81479
CC2D2A 81479,81479
CCNP 81479,81479
CHD7 81407,81479
CHMP4B 81479,81479
CHRDL1 81479,81479
CHST6 81479,81479
CLDN19 81479,81479
CLPB 81479,81479
COL11A1 81479,81479
COL18A1 81479,81479
COL2A1 81479,81479
COL4A1 81408,81479
COL4A2 81479,81479
COL8A2 81479,81479
COX7B 81479,81479
CPAMD8 81479,81479
CRIM1 81479,81479
CRPPA 81405,81479
CRYAA 81479,81479
CRYAB 81479,81479
CRYBA1 81479,81479
CRYBA2 81479,81479
CRYBA4 81479,81479
CRYBB1 81479,81479
CRYBB2 81479,81479
CRYBB3 81479,81479
CRYGB 81479,81479
CRYGC 81479,81479
CRYGD 81479,81479
CRYGS 81479,81479
CTDP1 81479,81479
CYP1B1 81404,81479
CYP27A1 81479,81479
DCN 81479,81479
DHCR7 81405,81479
ELP4 81479,81479
EPG5 81479,81479
EPHA2 81479,81479
ERCC1 81479,81479
ERCC2 81479,81479
ERCC5 81479,81479
ERCC6 81479,81479
ERCC8 81479,81479
ESCO2 81479,81479
EVA1A 81479,81479
EYA1 81406,81405
FAH 81406,81479
FAM131A 81479,81479
FBN1 81408,81479
FOXC1 81479,81479
FOXC2 81479,81479
FOXE3 81479,81479
FOXL2 81479,81479
FRAS1 81479,81479
FREM1 81479,81479
FREM2 81479,81479
FTL 81479,81479
FYCO1 81479,81479
FZD4 81479,81479
GALK1 81479,81479
GCNT2 81479,81479
GDF3 81479,81479
GDF6 81479,81479
GFER 81479,81479
GJA1 81479,81479
GJA3 81479,81479
GJA8 81479,81479
GJC3 81479,81479
GLA 81405,81479
GLI2 81479,81479
GNPAT 81479,81479
GNPTG 81479,81479
GPR160 81479,81479
GRHL2 81479,81479
GRIP1 81479,81479
GRWD1 81479,81479
GSN 81479,81479
HCCS 81479,81479
HESX1 81479,81479
HMGB3 81479,81479
HMX1 81479,81479
HSF4 81479,81479
HYCC1 81479,81479
IGBP1 81479,81479
IKBKG 81479,81479
INPP5B 81479,81479
JAG1 81407,81406
JAM3 81479,81479
KERA 81479,81479
KLHL21 81479,81479
KRT12 81479,81479
KRT3 81479,81479
LAMB1 81479,81479
LAMB2 81407,81479
LARGE1 81479,81479
LCAT 81479,81479
LCT 81479,81479
LEMD2 81479,81479
LENG8 81479,81479
LIM2 81479,81479
LMX1B 81479,81479
LRP5 81406,81479
LSS 81479,81479
LTBP2 81479,81479
LTBP3 81479,81479
MAB21L1 81479,81479
MAB21L2 81479,81479
MAF 81479,81479
MAN1C1 81479,81479
MAN2B1 81479,81479
MAP6D1 81479,81479
MECR 81479,81479
MEIS1 81479,81479
MFRP 81479,81479
MIP 81479,81479
MIR184 81479,81479
MIR204 81479,81479
MITF 81479,81479
MMP1 81479,81479
MSMO1 81479,81479
MSRA 81479,81479
MTMR7 81479,81479
MXRA8 81479,81479
MYH9 81479,81479
MYOC 81479,81479
NAA10 81479,81479
NDP 81404,81403
NDUFA1 81404,81479
NECTIN2 81479,81479
NECTIN3 81479,81479
NF2 81479,81479
NHS 81479,81479
NIPAL3 81479,81479
NOTCH2 81479,81479
NRCAM 81479,81479
NTF4 81479,81479
OCRL 81479,81479
OPA1 81407,81406
OPA3 81479,81479
OPTN 81406,81479
OTX2 81479,81479
OVOL2 81479,81479
P3H2 81479,81479
PAX2 81406,81479
PAX3 81479,81479
PAX6 81479,81479
PEAK1 81479,81479
PEX1 81479,81479
PEX10 81479,81479
PEX11B 81479,81479
PEX12 81479,81479
PEX13 81479,81479
PEX14 81479,81479
PEX16 81479,81479
PEX19 81479,81479
PEX2 81479,81479
PEX26 81479,81479
PEX3 81479,81479
PEX5 81479,81479
PEX6 81479,81479
PEX7 81479,81479
PIGL 81479,81479
PIKFYVE 81479,81479
PITX2 81479,81479
PITX3 81479,81479
PLD1 81479,81479
PLD3 81479,81479
POMT1 81406,81479
POMT2 81406,81479
PON2 81479,81479
PORCN 81479,81479
PQBP1 81405,81404
PRDM5 81479,81479
PRKAA2 81479,81479
PRKCI 81479,81479
PROX1 81479,81479
PRSS56 81479,81479
PRX 81405,81479
PTCH1 81479,81479
PTPRU 81479,81479
PXDN 81479,81479
RAB18 81479,81479
RAB3GAP1 81479,81479
RAB3GAP2 81479,81479
RARB 81479,81479
RAX 81479,81479
RBP4 81479,81479
RDH11 81479,81479
RECQL4 81479,81479
RHOBTB2 81479,81479
RPGRIP1L 81479,81479
RPS19 81405,81479
RRM2B 81405,81479
SALL2 81479,81479
SBF2 81479,81479
SC5D 81479,81479
SEC23A 81479,81479
SEMA3A 81479,81479
SEMA3E 81479,81479
SH3PXD2B 81479,81479
SHH 81479,81479
SIL1 81405,81479
SIPA1L3 81479,81479
SIX3 81479,81479
SIX5 81479,81479
SIX6 81479,81479
SLC16A12 81479,81479
SLC1A5 81479,81479
SLC25A13 81479,81479
SLC25A33 81479,81479
SLC25A40 81479,81479
SLC2A1 81405,81479
SLC33A1 81479,81479
SLC38A8 81479,81479
SLC4A4 81479,81479
SMCHD1 81479,81479
SMOC1 81479,81479
SOX1 81479,81479
SOX2 81479,81479
SPINT2 81479,81479
SRD5A3 81479,81479
SREBF2 81479,81479
STEAP1 81479,81479
STEAP2 81479,81479
STRA6 81479,81479
TACR1 81479,81479
TBC1D20 81479,81479
TBK1 81479,81479
TDRD7 81479,81479
TENM1 81479,81479
TENM3 81479,81479
TFAP2A 81479,81479
TGIF1 81479,81479
TMED3 81479,81479
TMEM114 81479,81479
TMEM67 81407,81479
TNPO1 81479,81479
TRAPPC6A 81479,81479
TTC14 81479,81479
TTR 81404,81479
UNC45B 81479,81479
UPF3B 81479,81479
VAX1 81479,81479
VIM 81479,81479
VPS13B 81408,81407
VSX1 81479,81479
VSX2 81479,81479
WDR36 81479,81479
WFS1 81479,81479
YAP1 81479,81479
YBX1 81479,81479
ZEB1 81479,81479
ZIC2 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
12003Genes x (281)81479 81403(x1), 81404(x5), 81405(x10), 81406(x10), 81407(x6), 81408(x3), 81479(x527) $1490 Order Options and Pricing

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 Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

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

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Dana Talsness, PhD

Clinical Features and Genetics

Clinical Features

Anterior segment dysgenesis disorders (ASDD) are rare developmental disorders in which the anterior segment of the eye including the iris, cornea, lens and trabecular meshwork are affected and result in a spectrum of anomalies such as aniridia, cataracts and glaucoma that lead to visual disability in childhood (Ito and Walter. 2014. PubMed ID: 24433355; Brémond-Gignac et al. 2010. PubMed ID: 20806047; Semina et al. 2001. PubMed ID: 11159941).

ASD can be an isolated or a syndromic disorder with systemic defects. Onset varies from congenital, juvenile and later depending on type of disorder (Reis and Semina. 2011. PubMed ID: 21730847). The most common syndromic ASD disorders are Axenfeld–Rieger syndrome (ARS), Peters’ anomaly, and the systemic anomalies Alagille syndrome, SHORT syndrome and Pierson syndrome (Doucette et al. 2011. PubMed ID: 21150893). ASD is associated with an ~50% risk for glaucoma (Alward. 2000. PubMed ID: 11004268). The incidence of glaucoma in ARS patients with pathogenic variants in PITX2 or FOXC1 has been reported to be 75%, rising to 100% in patients with pathogenic duplication in FOXC1 (Kelberman et al. 2011. PubMed ID: 21837767).

With the advent of gene therapy and other types of treatments, the identification of causative genes and variants is becoming increasingly important.

Genetics

Anterior segment dysgenesis (ASD) demonstrates both autosomal dominant and recessive patterns of inheritance and often with incomplete penetrance/variable expressivity (Alward. 2000. PubMed ID: 11004268).

Pathogenic variants in genes encoding transcription factors such as PAX6, PITX2, FOXC1, FOXE3 and PITX3, which are expressed during the migration of neural crest cells in eye development, have been associated with ASDD such as aniridia, Axenfeld–Rieger syndrome and Peters anomaly (Doucette et al. 2011. PubMed ID: 21150893). Pathogenic variants in genes that encode structural components of the eye, such as the crystallins (CRYAA, CRYAB, CRYBA1, CRYBB1, CRYBB2, CRYBB3, CRYBA4, CRYGS, CRYGC, CRYGD), and lens-specific connexins (GJA3, GJA8) are associated with various forms of ASDD such as congenital cataracts and microcornea-cataract syndrome (Hejtmancik. 2008. PubMed ID: 18035564; Doucette et al. 2011. PubMed ID: 21150893). The remainder encode membrane proteins (aquaporin-0 AQP0, also known as MIP), cytoskeletal structural proteins (beaded filament structural proteins BFSP1 and BFSP2) and others (FYCO1, GCNT2, HSF4, LIM2, SIL1, TDRD7, FOXE3, CHMP4B, EPHA2, SLC33A1, AGK, FOXC1, MYOC, OPTN, or WDR36) (Hejtmancik. 2008. PubMed ID: 18035564).

De novo pathogenic variants have been reported in FOXC1 and PITX2 (Ito et al. 2007. PubMed ID: 17210863; Medina-Trillo et al. 2019. PubMed ID: 30657791; Pasutto et al. 2015. PubMed ID: 25967385).

A single digenic inheritance case has been reported in a family who segregated variants in both PITX2 (p.Ser233Leu) and FOXC1 (c.609delC). The most severely affected individual inherited both variants from affected parents. FOXC1 and PITX2 are capable of independently activating transcription of the target genes that are expressed during anterior segment development and the lowest transactivation activity is observed when both pathogenic variants are present together (Kelberman et al. 2011. PubMed ID: 21837767).

To gain insight into the diverse roles of PITX2 in vertebrate development and associated phenotypes, a zebrafish model was generated by introducing genetic variations in PITX2 via TALEN-mediated genome editing that resulted in complete knockout. Affected homozygous zebrafish exhibited congenital defects consistent with the range of PITX2-associated human phenotypes such as ocular and craniofacial defects. Also, this analysis identified the link between PITX2 and the WNT pathway and suggested a new role in regulation of corneal collagens gene expression during development (Hendee et al. 2018. PubMed ID: 29506241)

See individual gene test descriptions for more information on molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

Approximately 25%-60% of Axenfeld-Rieger syndrome cases are due to FOXC1 or PITX2 pathogenic variants (Tümer and Bach-Holm. 2009. PubMed ID: 19513095; Reis et al. 2012. PubMed ID: 22569110; Alward. 2000. PubMed ID: 11004268; D'haene et al. 2011. PubMed ID: 20881294; Thanikachalam et al. 2020. PubMed ID: 32224865).

Another study reported that 3.6% (9/251) of the patients with primary open-angle glaucoma had pathogenic variants in the CYP1B1, MYOC, and OPTN genes (Kumar et al. 2007. PubMed ID: 17563717).

Whole exome sequencing identified pathogenic variants in CRYAA, CRYBB1, CRYBB3, CRYGC, CRYGD, GJA8 and MIP in 9 probands from 23 pedigrees (39%) affected by familial dominant cataract (Reis et al. 2013. PubMed ID: 23508780). Screening in 25 Chinese families with congenital cataracts identified pathogenic variants in 10 families (40%) in 12 genes encoding crystallins (CRYAA, CRYAB, CRYBA1, CRYBB1, CRYBB2, CRYBB3, CRYBA4, CRYGS, CRYGC, CRYGD), and connexins (GJA3 and GJA8). Approximately 32% of the families had pathogenic variants in crystallin genes and 8% of the families had pathogenic variants in connexin genes (Sun et al. 2011. PubMed ID: 21866213).

Testing Strategy

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

This panel typically provides 99.3% 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. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

All patients with symptoms suggestive of Anterior Segment Dysgenesis are candidates.

Genes

Official Gene Symbol OMIM ID
ABCB6 605452
ABHD12 613599
ACTB 102630
ACVR1 102576
ACVR1C 608981
ADAMTS10 608990
ADAMTS18 607512
AGBL1 615496
AGK 610345
AGPS 603051
AKAP14 300462
ALDH18A1 138250
ALDH1A3 600463
ALPL 171760
ASPH 600582
ATOH7 609875
B3GLCT 610308
BCOR 300485
BEST1 607854
BFSP1 603307
BFSP2 603212
BMP4 112262
BMP7 112267
C12orf57 615140
CA4 114760
CANT1 613165
CAPN15 603267
CAV1 601047
CC2D2A 612013
CCNP 0
CHD7 608892
CHMP4B 610897
CHRDL1 300350
CHST6 605294
CLDN19 610036
CLPB 616254
COL11A1 120280
COL18A1 120328
COL2A1 120140
COL4A1 120130
COL4A2 120090
COL8A2 120252
COX7B 603792
CPAMD8 608841
CRIM1 606189
CRPPA 614631
CRYAA 123580
CRYAB 123590
CRYBA1 123610
CRYBA2 600836
CRYBA4 123631
CRYBB1 600929
CRYBB2 123620
CRYBB3 123630
CRYGB 123670
CRYGC 123680
CRYGD 123690
CRYGS 123730
CTDP1 604927
CYP1B1 601771
CYP27A1 606530
DCN 125255
DHCR7 602858
ELP4 606985
EPG5 615068
EPHA2 176946
ERCC1 126380
ERCC2 126340
ERCC5 133530
ERCC6 609413
ERCC8 609412
ESCO2 609353
EVA1A 618990
EYA1 601653
FAH 613871
FAM131A 0
FBN1 134797
FOXC1 601090
FOXC2 602402
FOXE3 601094
FOXL2 605597
FRAS1 607830
FREM1 608944
FREM2 608945
FTL 134790
FYCO1 607182
FZD4 604579
GALK1 604313
GCNT2 600429
GDF3 606522
GDF6 601147
GFER 600924
GJA1 121014
GJA3 121015
GJA8 600897
GJC3 611925
GLA 300644
GLI2 165230
GNPAT 602744
GNPTG 607838
GPR160 0
GRHL2 608576
GRIP1 604597
GRWD1 610597
GSN 137350
HCCS 300056
HESX1 601802
HMGB3 300193
HMX1 142992
HSF4 602438
HYCC1 610531
IGBP1 300139
IKBKG 300248
INPP5B 147264
JAG1 601920
JAM3 606871
KERA 603288
KLHL21 616262
KRT12 601687
KRT3 148043
LAMB1 150240
LAMB2 150325
LARGE1 603590
LCAT 606967
LCT 603202
LEMD2 616312
LENG8 616575
LIM2 154045
LMX1B 602575
LRP5 603506
LSS 600909
LTBP2 602091
LTBP3 602090
MAB21L1 601280
MAB21L2 604357
MAF 177075
MAN1C1 616772
MAN2B1 609458
MAP6D1 610593
MECR 608205
MEIS1 601739
MFRP 606227
MIP 154050
MIR184 613146
MIR204 610942
MITF 156845
MMP1 120353
MSMO1 607545
MSRA 601250
MTMR7 603562
MXRA8 617293
MYH9 160775
MYOC 601652
NAA10 300013
NDP 300658
NDUFA1 300078
NECTIN2 600798
NECTIN3 607147
NF2 607379
NHS 300457
NIPAL3 0
NOTCH2 600275
NRCAM 601581
NTF4 162662
OCRL 300535
OPA1 605290
OPA3 606580
OPTN 602432
OTX2 600037
OVOL2 616441
P3H2 610341
PAX2 167409
PAX3 606597
PAX6 607108
PEAK1 614248
PEX1 602136
PEX10 602859
PEX11B 603867
PEX12 601758
PEX13 601789
PEX14 601791
PEX16 603360
PEX19 600279
PEX2 170993
PEX26 608666
PEX3 603164
PEX5 600414
PEX6 601498
PEX7 601757
PIGL 605947
PIKFYVE 609414
PITX2 601542
PITX3 602669
PLD1 602382
PLD3 615698
POMT1 607423
POMT2 607439
PON2 602447
PORCN 300651
PQBP1 300463
PRDM5 614161
PRKAA2 600497
PRKCI 600539
PROX1 601546
PRSS56 613858
PRX 605725
PTCH1 601309
PTPRU 602454
PXDN 605158
RAB18 602207
RAB3GAP1 602536
RAB3GAP2 609275
RARB 180220
RAX 601881
RBP4 180250
RDH11 607849
RECQL4 603780
RHOBTB2 607352
RPGRIP1L 610937
RPS19 603474
RRM2B 604712
SALL2 602219
SBF2 607697
SC5D 602286
SEC23A 610511
SEMA3A 603961
SEMA3E 608166
SH3PXD2B 613293
SHH 600725
SIL1 608005
SIPA1L3 616655
SIX3 603714
SIX5 600963
SIX6 606326
SLC16A12 611910
SLC1A5 109190
SLC25A13 603859
SLC25A33 610816
SLC25A40 610821
SLC2A1 138140
SLC33A1 603690
SLC38A8 615585
SLC4A4 603345
SMCHD1 614982
SMOC1 608488
SOX1 602148
SOX2 184429
SPINT2 605124
SRD5A3 611715
SREBF2 600481
STEAP1 604415
STEAP2 605094
STRA6 610745
TACR1 162323
TBC1D20 611663
TBK1 604834
TDRD7 611258
TENM1 300588
TENM3 610083
TFAP2A 107580
TGIF1 602630
TMED3 0
TMEM114 611579
TMEM67 609884
TNPO1 602901
TRAPPC6A 610396
TTC14 0
TTR 176300
UNC45B 611220
UPF3B 300298
VAX1 604294
VIM 193060
VPS13B 607817
VSX1 605020
VSX2 142993
WDR36 609669
WFS1 606201
YAP1 606608
YBX1 154030
ZEB1 189909
ZIC2 603073
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
3-Methylglutaconic Aciduria Type 3 AR 258501
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia AR 616271
Age-Related Macular Degeneration 5 AR 613761
Alagille Syndrome 1 AD 118450
Alagille Syndrome 2 AD 610205
Albinism, Ocular, With Sensorineural Deafness AD 103470
Amyotrophic Lateral Sclerosis Type 12 613435
Aniridia 2 AD 617141
Anterior segment dysgenesis 6, multiple subtypes 617315
Anterior segment dysgenesis 8 AR 617319
Anterior Segment Mesenchymal Dysgenesis AD 107250
Aphakia, Congenital Primary AR 610256
Axenfeld-Rieger Syndrome Type 3 AD 602482
Axenfeld-Rieger syndrome, type 1 AD 180500
Ayme-Gripp Syndrome AD 601088
Baraitser-Winter Syndrome 1 AD 243310
Bardet-Biedl Syndrome 14 AR 615991
Behr Syndrome AR 210000
Bestrophinopathy, Autosomal Recessive 611809
Blepharophimosis, Ptosis, And Epicanthus Inversus AD 110100
Bosma arhinia microphthalmia syndrome AD 603457
Brain Small Vessel Disease With Hemorrhage AD 607595
Branchiooculofacial Syndrome AD 113620
Branchiootorenal Syndrome 1, with or without Cataracts AD 113650
Brittle Cornea Syndrome 2 AR 614170
Cataract 10 AD 600881
Cataract 11 AD 610623
Cataract 12 AD 611597
Cataract 13 AR 116700
Cataract 14 AD 601885
Cataract 15 AD 615274
Cataract 16 AD 613763
Cataract 17 AD 611544
Cataract 18 AR 610019
Cataract 19 AR 615277
Cataract 2 AD 604307
Cataract 20 AD 116100
Cataract 21 AD 610202
Cataract 22 AD 609741
Cataract 23 610425
Cataract 3 AD 601547
Cataract 30 AD 116300
Cataract 31 AD 605387
Cataract 33 AD 611391
Cataract 34, multiple types AD 612968
Cataract 36 AR 613887
Cataract 38 AR 614691
Cataract 39 AD 615188
Cataract 4 AD 115700
Cataract 41 AD 116400
Cataract 42 AD 115900
Cataract 43 AD 616279
Cataract 44 AR 616509
Cataract 45 AR 616851
Cataract 46, juvenile-onset AR 212500
Cataract 47 AD 612018
Cataract 5 AD 116800
Cataract 6 AD 116600
Cataract 9 AD 604219
Cataract, Congenital, X-Linked XL 302200
Cataract, Zonular Pulverulent 1 AD 116200
Cerebellar, ocular, craniofacial, and genital syndrome AR 618479
Cerebro-Oculo-Facio-Skeletal Syndrome AR 214150
Cerebrooculofacioskeletal Syndrome 2 AR 610756
Cerebrooculofacioskeletal syndrome 3 AR 616570
Cerebrooculofacioskeletal Syndrome 4 AR 610758
Cerebrotendinous Xanthomatosis AR 213700
Charcot-Marie-Tooth Disease, Type 4B2 AR 604563
Charcot-Marie-Tooth Disease, Type 4F AR 614895
CHARGE Association AD 214800
CHIME syndrome AR 280000
COACH Syndrome AR 216360
Cockayne Syndrome Type I AR 216400
Cohen Syndrome AR 216550
Coloboma Of Optic Disc AD 120430
Coloboma, Ocular AD 120200
Coloboma, ocular, autosomal recessive AR 216820
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation AD 120433
COMMAD syndrome AR 617306
Congenital Aniridia AD 106210
Congenital Cataracts, Facial Dysmorphism, And Neuropathy AR 604168
Congenital Cataracts, Hearing Loss, and Neurodegeneration AR 614482
Congenital Stromal Corneal Dystrophy AD 610048
Cornea Plana 2 AR 217300
Corneal Dystrophy Fuchs Endothelial 1 AD 136800
Corneal Dystrophy, Fuchs Endothelial, 6 613270
Corneal Dystrophy, Fuchs Endothelial, 8 AD 615523
Corneal Dystrophy, Posterior Polymorphous, 2 AD 609140
Corneal Dystrophy, Posterior Polymorphous, 3 609141
Corneal dystrophy, posterior polymorphous, 4 AD 618031
Corneal Opacification and Other Ocular Anomalies AR 269400
Corpus Callosum, Agenesis Of, With Mental Retardation, Ocular Coloboma, And Micrognathia XL 300472
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome 614195
Craniolenticulosutural Dysplasia AR 607812
Culler-Jones Syndrome AD 615849
Czech Dysplasia Metatarsal Type AD 609162
Deficiency Of Galactokinase AR 230200
Dent Disease 2 XL 300555
Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness AR 222300
Dominant Hereditary Optic Atrophy AD 165500
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities AR 617282
Ectopia Lentis, Isolated, Autosomal Dominant AD 129600
Exudative Vitreoretinopathy 2, X-Linked 305390
Exudative Vitreoretinopathy 4 AD 601813
Familial Exudative Vitreoretinopathy AD 133780
Fish-Eye Disease AR 136120
Fleck Corneal Dystrophy AD 121850
Foveal Hypoplasia 2, with or without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis AR 609218
Foveal Hypoplasia And Presenile Cataract Syndrome AD 136520
Frank Ter Haar Syndrome AR 249420
Fraser Syndrome AR 219000
Fraser Syndrome 2 AR 617666
Fraser Syndrome 3 AR 617667
Glaucoma 1, Open Angle, G 609887
Glaucoma 1, Open Angle, O 613100
Glaucoma 3, Primary Congenital, D 613086
Glaucoma, Congenital AR 231300
Glaucoma, Normal Tension, Susceptibility To AD 606657
Hajdu-Cheney Syndrome AD 102500
Heimler syndrome 1 AR 234580
Heimler syndrome 2 AR 616617
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts AR 613730
Hyperferritinemia Cataract Syndrome AD 600886
Hypomagnesemia 5, Renal, With Ocular Involvement AR 248190
Incontinentia Pigmenti XL 308300
Iridogoniodysgenesis Type1 AD 601631
Iridogoniodysgenesis, Dominant Type AD 137600
Joubert Syndrome 6 AR 610688
Joubert Syndrome 7 AR 611560
Joubert Syndrome 9 AR 612285
Kahrizi syndrome AR 612713
Keratoconus 1 AD 148300
Klein-Waardenberg's Syndrome AD 148820
Klippel-Feil Syndrome 1, Autosomal Dominant AD 118100
Klippel-Feil Syndrome 3, Autosomal Dominant 613702
Knobloch Syndrome 1 AR 267750
Leber Congenital Amaurosis 17 AR 615360
Lenz Microphthalmia Syndrome XL 309800
Linear Skin Defects with Multiple Congenital Anomalies 2 XL 300887
Lowe Syndrome XL 309000
Macular Corneal Dystrophy Type I AR 217800
Manitoba Oculotrichoanal Syndrome AR 248450
Marfan Syndrome AD 154700
Marinesco-Sjogren Syndrome AR 248800
Marshall Syndrome AD 154780
Martsolf Syndrome AR 212720
Meckel Syndrome 3 AR 607361
Meckel Syndrome 5 AR 611561
Meckel Syndrome 6 AR 612284
Meesmann Corneal Dystrophy AD 122100
Microcephaly, congenital cataract, and psoriasiform dermatitis AR 616834
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus AR 615458
Microphthalmia Syndromic 3 AD 206900
Microphthalmia Syndromic 5 AD 610125
Microphthalmia Syndromic 6 AD 607932
Microphthalmia Syndromic 9 AR 601186
Microphthalmia With Limb Anomalies AR 206920
Microphthalmia, Isolated 2 610093
Microphthalmia, Isolated 3 AR 611038
Microphthalmia, Isolated 4 AD 613094
Microphthalmia, Isolated 5 AR 611040
Microphthalmia, Isolated 6 AR 613517
Microphthalmia, Isolated 7 AD 613704
Microphthalmia, Isolated 8 AR 615113
Microphthalmia, Isolated, with Coloboma 10 AD 616428
Microphthalmia, Isolated, With Coloboma 3 610092
Microphthalmia, Isolated, With Coloboma 5 AD 611638
Microphthalmia, Isolated, With Coloboma 6 AD 613703
Microphthalmia, isolated, with coloboma 7 AD 614497
Microphthalmia, Isolated, with Coloboma 9 AR 615145
Microphthalmia, syndromic 11 AR 614402
Microphthalmia, syndromic 12 AD 615524
Microphthalmia, Syndromic 13 XL 300915
Microphthalmia/Coloboma and Skeletal Dysplasia Syndrome AD 615877
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma AR 251750
Mitochondrial Complex I Deficiency MT 252010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 AR 613150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 AR 613154
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 AR 614643
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay 613076
Myopia, High, with Cataract And Vitreoretinal Degeneration AR 614292
Nail-Patella Syndrome AD 161200
Nance-Horan Syndrome XL 302350
Nanophthalmos 2 AR 609549
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities 614199
Norrie Disease XL 310600
Norum Disease AR 245900
Oculoauricular Syndrome AR 612109
Oculodentodigital Dysplasia AD 164200
Oculodentodigital Dysplasia, Autosomal Recessive AR 257850
Oculofaciocardiodental Syndrome XL 300166
Ogden Syndrome XL 300855
Optic Atrophy And Cataract, Autosomal Dominant AD 165300
Optic Atrophy Type 1 AD 125250
Optic Disc Anomalies with Retinal and/or Macular Dystrophy AR 212550
Optic Nerve Hypoplasia, Bilateral AD 165550
Orofacial Cleft 11 AD 600625
Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome AD 606721
Peroxisome biogenesis disorder 10A (Zellweger) AR 614882
Peroxisome biogenesis disorder 10B AR 617370
Peroxisome biogenesis disorder 11A (Zellweger) AR 614883
Peroxisome biogenesis disorder 11B AR 614885
Peroxisome biogenesis disorder 12A (Zellweger) AR 614886
Peroxisome biogenesis disorder 13A (Zellweger) AR 614887
Peroxisome Biogenesis Disorder 14B AR 614920
Peroxisome biogenesis disorder 1A (Zellweger) AR 214100
Peroxisome biogenesis disorder 1B (NALD/IRD) AR 601539
Peroxisome biogenesis disorder 2A (Zellweger) AR 214110
Peroxisome biogenesis disorder 2B AR 202370
Peroxisome biogenesis disorder 3A (Zellweger) AR 614859
Peroxisome biogenesis disorder 3B AR 266510
Peroxisome biogenesis disorder 4A (Zellweger) AR 614862
Peroxisome biogenesis disorder 4B AD 614863
Peroxisome biogenesis disorder 5A (Zellweger) AR 614866
Peroxisome biogenesis disorder 5B AR 614867
Peroxisome biogenesis disorder 6A (Zellweger) AR 614870
Peroxisome biogenesis disorder 6B AR 614871
Peroxisome biogenesis disorder 7A (Zellweger) AR 614872
Peroxisome biogenesis disorder 7B AR 614873
Peroxisome biogenesis disorder 8A, (Zellweger) AR 614876
Peroxisome biogenesis disorder 8B AR 614877
Peroxisome Biogenesis Disorder 9B 614879
Peters Anomaly AD 604229
Peters Plus Syndrome AR 261540
Pierson Syndrome AR 609049
Polymorphous Corneal Dystrophy AD 122000
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract AR 612674
Primary Open Angle Glaucoma AD 137760
Primary Open Angle Glaucoma Juvenile Onset 1 AD 137750
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 5 AD 613077
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation AR 604278
Renpenning Syndrome 1 XL 309500
Retinal Dystrophy and Iris Coloboma with or without Cataract AD 616722
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome AR 615147
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome AR 616108
Retinitis Pigmentosa 17 AD 600852
Retinitis Pigmentosa 50 AD 613194
Rhizomelic Chondrodysplasia Punctata Type 1 AR 215100
Rhizomelic Chondrodysplasia Punctata Type 2 AR 222765
Rhizomelic Chondrodysplasia Punctata, Type 3 AR 600121
Rhizomelic chondrodysplasia punctata, type 5 AR 616716
Ring Dermoid Of Cornea AD 180550
Roberts Syndrome AR 268300
Rothmund-Thomson Syndrome AR 268400
Sengers syndrome AR 212350
Smith-Lemli-Opitz Syndrome AR 270400
Spinocerebellar ataxia 46 AD 617770
Stickler Syndrome Type 1 AD 108300
Stickler Syndrome, Type 2 AD 604841
Stickler Syndrome, Type I, Nonsyndromic Ocular AD 609508
Temtamy Syndrome AR 218340
Tietz Syndrome AD 103500
Traboulsi syndrome AR 601552
Vici Syndrome AR 242840
Vitelliform Dystrophy AD 153700
Vitreoretinochoroidopathy Dominant AD 193220
Waardenburg Syndrome Type 1 AD 193500
Waardenburg Syndrome, Type 2A AD 193510
Walker-Warburg Congenital Muscular Dystrophy AR 236670
Warburg Micro Syndrome 1 AR 600118
Warburg Micro Syndrome 2 AR 614225
Warburg Micro Syndrome 3 AR 614222
Warburg Micro Syndrome 4 AR 615663
Weill-Marchesani Syndrome 1 AR 277600
Weill-Marchesani Syndrome 2 AD 608328
Weill-Marchesani Syndrome 3 AR 614819
Wolfram-Like Syndrome, Autosomal Dominant AD 614296

Related Test

Name
PGxome®

Citations

  • Alward. 2000. PubMed ID: 11004268
  • Brémond-Gignac et al. 2010. PubMed ID: 20806047
  • D'haene et al. 2011. PubMed ID: 20881294
  • Doucette et al. 2011. PubMed ID: 21150893
  • Hejtmancik. 2008. PubMed ID: 18035564
  • Hendee et al. 2018. PubMed ID: 29506241
  • Ito and Walter. 2014. PubMed ID: 24433355
  • Kelberman et al. 2011. PubMed ID: 21837767
  • Kumar et al. 2007. PubMed ID: 17563717
  • Medina-Trillo et al. 2019. PubMed ID: 30657791
  • Pasutto et al. 2015. PubMed ID: 25967385
  • Reis and Semina. 2011. PubMed ID: 21730847
  • Reis et al. 2012. PubMed ID: 22569110
  • Semina et al. 2001. PubMed ID: 11159941
  • Sun et al. 2011. PubMed ID: 21866213
  • Thanikachalam et al. 2020. PubMed ID: 32224865
  • Tümer and Bach-Holm. 2009. PubMed ID: 19513095

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

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1) Select Test Method (Backbone)


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2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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