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Amelogenesis and Dentinogenesis Imperfecta Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
5207 ACP4 81479,81479 Order Options and Pricing
AMBN 81479,81479
AMELX 81479,81479
AMTN 81479,81479
CLDN16 81479,81479
CLDN19 81479,81479
CNNM4 81479,81479
COL17A1 81479,81479
COL1A1 81408,81479
COL1A2 81408,81479
DLX3 81479,81479
DSPP 81479,81479
ENAM 81479,81479
FAM20A 81479,81479
FAM20C 81479,81479
FAM83H 81479,81479
GPR68 81479,81479
ITGB6 81479,81479
KLK4 81479,81479
LAMA3 81479,81479
LAMB3 81479,81479
LTBP3 81479,81479
MIA3 81479,81479
MMP20 81479,81479
ODAPH 81479,81479
RELT 81479,81479
ROGDI 81479,81479
SLC10A7 81479,81479
SLC13A5 81479,81479
SLC24A4 81479,81479
SMOC2 81479,81479
SP6 81479,81479
STIM1 81479,81479
WDR72 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
5207Genes x (34)81479 81408(x2), 81479(x66) $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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Stela Berisha, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Amelogenesis imperfecta (AI) is a heterogeneous group of conditions characterized by inherited developmental defects in the formation of enamel affecting both primary and permanent teeth. Affected teeth are abnormally thin, soft, fragile, pitted or grooved, discolored and prone to rapid wear and breakage, associated with early tooth loss, eating difficulties, and pain. Based on the clinical and radiographic features of the enamel defects as well as on the mode of inheritance pattern, AI has been divided into different subtypes, which can be grouped into four major forms. These include hypoplastic AI (type I) and hypomaturation AI (type II), which is further subdivided into hypocalcified (type III) and hypomaturation/hypoplastic/taurodontism (type IV) (Witkop et al. 1988. PubMed ID: 3150442; Smith et al. 2017. PubMed ID: 28694781). Type I hypoplastic AI is characterized by thin but mineralized enamel or, in extreme cases, the complete absence of enamel (secretion stage related defect). Type II hypomineralized AI gives rise to enamel that is of full thickness but is weak and fails prematurely (maturation stage-related defect). Type III hypocalcified AI, which is caused by incomplete removal of protein from the enamel matrix, may present with brittle enamel that can be easily scraped or chipped away by attrition. Type IV hypomaturated-hypoplastic with taurodontism AI is characterized by insufficient transport of calcium ions into the developing enamel and produces soft enamel (Witkop et al. 1988. PubMed ID: 3150442; Crawford et al. 2007. PubMed ID: 17408482; Smith et al. 2017. PubMed ID: 28694781). The frequency of amelogenesis imperfecta varies between populations, and it is estimated to range from 1 in 700 to 1 in 14,000 (Smith et al. 2017. PubMed ID: 28694781).

Dentinogenesis imperfecta is a hereditary dentin defect which is characterized by severe hypomineralization of dentin and altered dentin structure. Prevalence of dentinogenesis imperfecta is estimated to be ~1/6,000 to 1/8,000 (Dure-Molla et al. 2015. PubMed ID: 25118030).

Genetics

This panel includes genes associated with amelogenesis imperfecta, enamel dysplasia, or dentinogenesis imperfecta. These disorders are genetically heterogenous and can be inherited in an autosomal dominant, autosomal recessive, and X-linked manner. A 2017 study reported that of the AI families with a known pathogenic variant, 132 (48.9%) had autosomal dominant AI, 109 families had findings associated with autosomal recessive inheritance (40.4%) and 31 families were identified with X linked inheritance (11.5%) (Smith et al. 2017. PubMed ID: 28694781). All types of variants have been reported in the genes within this panel, including missense, nonsense, small deletions, duplications, insertions, indels, splicing, and regulatory variants. Copy number variants have also been reported in several of these genes.

Enamel or dentin defects can also present as clinical features of syndromic disorders. For example, Jalili Syndrome is an autosomal recessive disorder characterized by cone-rod dystrophy and amelogenesis imperfecta and is associated with pathogenic variants in the CNNM4 gene (Jalili et al. 1988. PubMed ID: 3236352; Jalili et al. 2010. PubMed ID: 20706282; Parry et al. 2009. PubMed ID: 19200525). Pathogenic variants in LTBP3 have been associated with autosomal recessive dental anomalies and short stature (Huckert et al. 2015. PubMed ID: 25669657). Pathogenic variants in FAM20C have been reported in individuals with Raine syndrome and enamel dysplasia (Fradin et al. 2011. PubMed ID: 20825432). Pathogenic variants in SLC10A7 have been associated with autosomal recessive short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) (Ashikov et al. 2018. PubMed ID: 29878199; Dubail et al. 2018. PubMed ID: 30082715). Furthermore, COL17A1 variants are associated with the autosomal recessive condition junctional epidermolysis bullosa (JEB); in addition, JEB patients often present with hypoplastic, pitted enamel (Wright et al. 1993. PubMed ID: 8297258), and heterozygous carriers of some pathogenic variants in this gene sometimes have AI in the absence of any skin phenotype (McGrath et al. 1996. PubMed ID: 8669466; Poulter al. 2014. PubMed ID: 24319098; Prasad et al. 2016. PubMed ID: 26502894).

Clinical Sensitivity - Sequencing with CNV PGxome

Due to insufficient epidemiological data on amelogenesis and dentinogenesis imperfecta, it is difficult to estimate prevalence; however, analysis of published AI disease-causing variants identified in 270 families revealed that four genes included in this panel account for ~60.4% of AI cases. Variants were most commonly identified in FAM83H (19.3% of cases), followed by FAM20A (15.2%), ENAM (14.2%), and AMELX (11.5%) (Smith et al. 2017. PubMed ID: 28694781). Therefore, this entire panel is expected to identify a molecular finding for more than 50% of clinically diagnosed AI.

Furthermore, this panel can identify copy number variants in genomic regions/genes included in this panel. For example, gross deletions/duplications greater than 100 bp have been reported in AMELX, AMBN, AMTN, CNNM4, COL1A1, COL1A2, COL17A1, DLX3, DSPP, FAM20A, FAM20C, GPR68, LAMA3, LAMB3, ROGDI, SLC10A7, SLC13A5, SLC24A4, and WDR72 (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 96.8% 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 individuals with a clinical diagnosis or symptoms of amelogenesis imperfecta or dentinogenesis imperfecta.

Diseases

Name Inheritance OMIM ID
Amelogenesis Imperfecta, Hypomaturation Type, IIa1 AR 204700
Amelogenesis Imperfecta, Hypomaturation Type, IIa2 AR 612529
Amelogenesis Imperfecta, Hypomaturation Type, IIa3 AR 613211
Amelogenesis imperfecta, hypomaturation type, IIA4 AR 614832
Amelogenesis Imperfecta, Hypomaturation Type, IIA6 AR 617217
Amelogenesis Imperfecta, Type IA AD 104530
Amelogenesis Imperfecta, Type Ib AD 104500
Amelogenesis Imperfecta, Type Ic AR 204650
Amelogenesis Imperfecta, Type Ie XL 301200
Amelogenesis imperfecta, type IF AR 616270
Amelogenesis Imperfecta, Type IG (Enamel-Renal Syndrome) AR 204690
Amelogenesis Imperfecta, Type IH AR 616221
Amelogenesis Imperfecta, Type IIA5 AR 615887
Amelogenesis Imperfecta, Type III AD 130900
Amelogenesis imperfecta, type IIIB AD 617607
Amelogenesis imperfecta, type IIIC AR 618386
Amelogenesis imperfecta, type IJ AR 617297
Amelogenesis imperfecta, type IK AD 620104
Amelogenesis Imperfecta, Type IV AD 104510
Caffey Disease AD 114000
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 AD 619115
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 AD 619120
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 AD 605594
Dental Anomalies and Short Stature AR 601216
Denticles AD 125420
Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth AR 125400
Dentinogenesis Imperfecta - Shield's Type II AD 125490
Dentinogenesis Imperfecta Shields Type 3 AD 125500
Ehlers-Danlos syndrome, arthrochalasia type, 2 AD 617821
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form AR 225320
Ehlers-Danlos Syndrome, Type VIIA and VIIB AD 130060
Epidermolysis bullosa, junctional 2A, intermediate AR 619783
Epidermolysis bullosa, junctional 2B, severe AR 619784
Epidermolysis bullosa, junctional 4, intermediate AR 619787
Epileptic Encephalopathy, Early Infantile, 25 AR 615905
Epithelial recurrent erosion dystrophy AD 122400
Geleophysic dysplasia 3 AD 617809
Hypomagnesemia 5, Renal, With Ocular Involvement AR 248190
Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2 AR 612783
Jalili Syndrome AR 217080
Junctional Epidermolysis Bullosa AR 226700
Kohlschutter-Tonz syndrome AR 226750
Laryngoonychocutaneous Syndrome AR 245660
Myopathy, tubular aggregate AD 160565
Non-Herlitz Junctional Epidermolysis Bullosa AR 226650
Ondontochondrodysplasia 2 with hearing loss and diabetes AR 619269
Osteogenesis Imperfecta Type III AD 259420
Osteogenesis Imperfecta, Type I AD 166200
Osteogenesis Imperfecta, Type II AD 166210
Osteogenesis Imperfecta, Type IV AD 166220
Osteoporosis AD 166710
Primary Hypomagnesemia AR 248250
Raine Syndrome AR 259775
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis AR 618363
Skin/Hair/Eye Pigmentation, Variation In, 6 AR 210750
Stormorken syndrome AD 185070
Tricho-Dento-Osseous Syndrome AD 190320

Related Test

Name
PGxome®

Citations

  • Ashikov et al. 2018. PubMed ID: 29878199
  • Crawford et al. 2007. PubMed ID: 17408482
  • Dubail et al. 2018. PubMed ID: 30082715
  • Dure-Molla et al. 2015. PubMed ID: 25118030
  • Fradin et al. 2011. PubMed ID: 20825432
  • Huckert et al. 2015. PubMed ID: 25669657
  • Human Gene Mutation Database (Biobase).
  • Jalili et al. 1988. PubMed ID: 3236352
  • McGrath et al. 1996. PubMed ID: 8669466
  • Parry et al. 2009. PubMed ID: 19200525
  • Poulter al. 2014. PubMed ID: 24319098
  • Prasad et al. 2016. PubMed ID: 26502894
  • Smith et al. 2017. PubMed ID: 28694781
  • Witkop et al. 1988. PubMed ID: 3150442
  • Wright et al. 1993. PubMed ID: 8297258

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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.


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

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