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Amelogenesis Imperfecta Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
5207 AMELX 81479,81479 Order Options and Pricing
CNNM4 81479,81479
DLX3 81479,81479
ENAM 81479,81479
FAM20A 81479,81479
FAM83H 81479,81479
GPR68 81479,81479
ITGB6 81479,81479
KLK4 81479,81479
LAMA3 81479,81479
LAMB3 81479,81479
LTBP3 81479,81479
MMP20 81479,81479
ODAPH 81479,81479
ROGDI 81479,81479
SLC24A4 81479,81479
SMOC2 81479,81479
WDR72 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
5207Genes x (18)81479 81479(x36) $990 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 platform).

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

Turnaround Time

3 weeks on average for standard orders or 2 weeks 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.


Genetic Counselors


  • Stela Berisha, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Amelogenesis imperfecta (AI) is a heterogeneous condition of enamel defects affecting both primary and permanent dentitions. Affected teeth are usually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Based on clinical and radiographic features of the enamel defects as well as on the mode of inheritance pattern, AI has been divided into 14 different subtypes, which can be grouped into four major forms: hypoplastic, hypomaturation, hypocalcified, and hypomaturation-hypoplastic with taurodontism (Witkop et al. 1988). Hypoplastic AI shows reduced enamel volume with pits or grooves, but enamel is usually hard and translucent. Hypomaturation and hypocalcified AI have hypomineralized enamel with nearly normal matrix volume. Hypomaturation enamel is hard, but brittle and prone to breaking off. Hypocalcified AI may present soft enamel which can be easily scraped away by attrition. Hypomaturation-hypoplastic with taurodontism shows reduced, hypomineralized enamel with pits; in addition, molars or other teeth may present enlarged pulp chambers (Witkop et al. 1988; Crawford et al. 2007).

AI and AI-related syndrome are currently known to be caused by pathogenic variants in the following genes: AMELX (Aldred et al. 1992), DLX3 (Price et al. 1998), ENAM (Mårdh et al. 2002), KLK4 (Hart et al. 2004), MMP20 (Kim et al. 2005), FAM83H (Lee et al. 2008; Kim et al. 2008), WDR72 (El-Sayed et al. 2009), FAM20A (O'Sullivan et al. 2011), ODAPH (C4orf26) (Parry et al. 2012), ROGDI (Schossig et al. 2012), SLC24A4 (Parry et al. 2013), ITGB6 (Poulter et al. 2014; Wang et al. 2014), LAMB3 (Kim et al. 2013), CNNM4 (Parry et al. 2009), NHS (Burdon et al. 2003), GPR68 (Parry et al. 2016), SLC24A4 (Parry et al. 2013), LTBP3 (Huckert et al. 2015) and SMOC2 (Bloch-Zupan et al. 2011).

Enamel defects can also occur as syndromic disorders. For example, Kohlschütter–Tönz syndrome features enamel defects, psychomotor delay or regression and seizures caused by ROGDI pathogenic variants (Tucci et al. 2013); Nance-Horan syndrome (NHS) is characterized by congenital cataracts, dental anomalies, dysmorphic features and mental retardation caused by pathogenic variants in the NHS gene (Burdon et al. 2003); Jalili Syndrome features autosomal-Recessive Cone-Rod dystrophy and amelogenesis Imperfecta caused by pathogenic variants in the CNNM4 gene (Parry et al. 2009); pathogenic variants in the FAM20A gene cause amelogenesis imperfecta and gingival hyperplasia syndrome as well as amelogenesis imperfecta and renal syndrome (O’Sullivan et al. 2011; Wang et al. 2013), and pathogenic variants in the LTBP3 gene cause Dental anomalies and short stature (Huckert et al. 2015).


Amelogenesis imperfecta is a highly heterogeneous condition. Pathogenic variants in AMELX are responsible for X-linked AI, FAM83H is the major gene currently known responsible for dominant AI, pathogenic variants in ENAM cause both dominant (mainly) and recessive AI (a few cases). Heterozygous carriers of LAMA3 pathogenic variants in a family affected with epidermolysis Bullosa were found to have enamel defects (Yuen et al. 2012). Autosomal recessive AI is caused by pathogenic variants in the ODAPH, KLK4, MMP20, WDR72, FAM20A, LAMB3, ITGB6, GPR68, SLC24A4 and SMOC2 genes. Pathogenic variants in DLX3 are responsible for dominant AI with trichodentoosseous syndrome. Pathogenic variants in ROGDI, CNNM4, FAM20A and LTBP3 are reported to cause autosomal recessive syndromic amelogenesis imperfecta. See individual gene test descriptions for information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

As reported, six genes (AMELX, ENAM, MMP20, KLK4, FAM83H, and WDR72) can explain roughly half of clinical diagnosed Amelogenesis Imperfecta (AI) cases. For reported pathogenic variants identified among only these six genes, pathogenic variants in FAM83H, AMELX and ENAM account for ~46%, ~23% and 11%, respectively, and MMP20, KLK4, and WDR72 together account for ~20% (Chan et al. 2011). In addition, FAM20A is the major gene for AI with gingival fibromatosis and nephrocalcinosis (O'Sullivan et al. 2011; Wang et al. 2013). In one study, pathogenic variants in CNNM4 were found in all affected patients with Jalili syndrome from 7 ethnically diverse families (Parry et al. 2009). Therefore, this entire panel is expected to explain more than 50% of clinically diagnosed AI.

Six gross deletions/duplications greater than 100 bp have been reported in AMELX (Hobson et al. 2009; HU et al. 2012; Human Gene Mutation Database). One large deletion involving DLX3 was identified in a family affected with osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability (Harbuz et al. 2013). One or two large deletions were reported in the CNNM4, FAM20A, LAMB3 and WDR72 (Human Gene Mutation Database). No gross deletions/duplications have been reported in ENAM, FAM83H, KLK4, LAMB3, MMP20, WDR72 and ROGDI (Human Gene Mutation Database).

Testing Strategy

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

This panel typically provides at least 99.7% 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

Candidates for this test are patients with amelogenesis imperfecta.


Official Gene Symbol OMIM ID
AMELX 300391
CNNM4 607805
DLX3 600525
ENAM 606585
FAM20A 611062
FAM83H 611927
GPR68 601404
ITGB6 147558
KLK4 603767
LAMA3 600805
LAMB3 150310
LTBP3 602090
MMP20 604629
ODAPH 614829
ROGDI 614574
SLC24A4 609840
SMOC2 607223
WDR72 613214
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test



  • Aldred M.J. et al. 1992. Human Genetics. 90: 413-6. PubMed ID: 1483698
  • Bloch-Zupan A. et al. 2011. American Journal of Human Genetics. 89: 773-81. PubMed ID: 22152679
  • Burdon K.P. et al. 2003. American Journal of Human Genetics. 73: 1120-30. PubMed ID: 14564667
  • Chan H.C. et al. 2011. European Journal of Oral Sciences. 119 Suppl 1: 311-23. PubMed ID: 22243262
  • Crawford P.J. et al. 2007. Orphanet Journal of Rare Diseases. 2: 17. PubMed ID: 17408482
  • El-Sayed W. et al. 2009. American Journal of Human Genetics. 85: 699-705. PubMed ID: 19853237
  • Harbuz R. et al. 2013. American Journal of Medical Genetics. Part A. 161A: 2504-11. PubMed ID: 23949819
  • Hart P.S. et al. 2004. Journal of Medical Genetics. 41: 545-9. PubMed ID: 15235027
  • Hobson G.M. et al. 2009. American Journal of Medical Genetics. Part A. 149A: 1698-705. PubMed ID: 19610109
  • Hu J.C. et al. 2012. Plos One. 7: e52052. PubMed ID: 23251683
  • Huckert et al. 2015. PubMed ID: 25669657
  • Human Gene Mutation Database (Bio-base).
  • Kim J.W. et al. 2005. Journal of Medical Genetics. 42: 271-5. PubMed ID: 15744043
  • Kim J.W. et al. 2008. American Journal of Human Genetics. 82: 489-94. PubMed ID: 18252228
  • Kim J.W. et al. 2013. Journal of Dental Research. 92: 899-904. PubMed ID: 23958762
  • Lee S.K. et al. 2008. Human Mutation. 29: E95-9. PubMed ID: 18484629
  • Mårdh C.K. et al. 2002. Human Molecular Genetics. 11: 1069-74. PubMed ID: 11978766
  • O'Sullivan J. et al. 2011. American Journal of Human Genetics. 88: 616-20. PubMed ID: 21549343
  • Parry D.A. et al. 2009. American Journal of Human Genetics. 84: 266-73. PubMed ID: 19200525
  • Parry D.A. et al. 2012. American Journal of Human Genetics. 91: 565-71. PubMed ID: 22901946
  • Parry D.A. et al. 2013. American Journal of Human Genetics. 92: 307-12. PubMed ID: 23375655
  • Parry D.A. et al. 2016. American Journal of Human Genetics. 99: 984-90. PubMed ID: 27693231
  • Poulter J.A. et al. 2014. Human Molecular Genetics. 23: 2189-97. PubMed ID: 24319098
  • Price J.A. et al. 1998. Journal of Medical Genetics. 35: 825–828. PubMed ID: 9783705
  • Schossig A. et al. 2012. American Journal of Human Genetics. 90: 701-7. PubMed ID: 22424600
  • Tucci A. et al. 2013. Human Mutation. 34: 296-300. PubMed ID: 23086778
  • Wang S.K. et al. 2013. Plos Genetics. 9: e1003302. PubMed ID: 23468644
  • Wang S.K. et al. 2014. Human Molecular Genetics. 23: 2157-63. PubMed ID: 24305999
  • Witkop C.J. Jr . 1988. Journal of Oral Pathology. 17: 547-53. PubMed ID: 3150442
  • Yuen W.Y. et al. 2012. Acta Dermato-venereologica. 92: 695-6. PubMed ID: 22434185


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