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Juvenile Hereditary Hemochromatosis via the HAMP Gene

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Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
HAMP 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9189HAMP81479 81479,81479 $990 Order Options and Pricing

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Luke Drury, PhD

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information.

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).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

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

  • Luke Drury, PhD

Clinical Features and Genetics

Indications for Test

Candidates for testing include individuals with biochemical testing showing elevated serum ferritin concentration (1000 to 7000μg/L) and elevated transferrin-iron saturation. Individuals with JHH also may have MRI imaging indicating hepatic iron overload (Goldberg 2011). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in HAMP.

Clinical Features

Juvenile hereditary hemochromatosis (JHH) is a disorder characterized by excess iron overload with symptoms presenting within the first or second decade of life. Initial symptoms include lack of appetite, fatigue, amenorrhea, and arthralgia. Chronic iron deposition can lead to advanced disease including hypogonadotropic hypogonadism, hepatomegaly, cirrhosis, cardiomyopathy, arthropathy, and osteoporosis. In severe cases, JHH has led to lethal cardiac disease. Glucose intolerance has also been reported in about half of JHH cases. Early diagnosis of JHH is important as phlebotomy can be used to reduce iron levels and greatly reduces morbidity and mortality (Goldberg 2011; Lanzara et al. 2004; Santos et al. 2012).

Genetics

There are six types of hemochromatosis, each due to a different genetic cause: type 1- HFE, type 2- HAMP or HFE2, type 3- TRF2, type 4- SLC40A1, type 5- FTH1, and type 6- FTL. Hemochromatosis is inherited in an autosomal recessive mode through pathogenic variants in the HFE, HAMP, HJV, or TRF2 genes or an autosomal dominant pattern through pathogenic variants in the SLC40A1, FTH1, or FTL genes (Santos et al. 2012). Intermediate iron overload phenotype has been seen individuals heterozygous for pathogenic variants in both the HAMP and HFE genes (Merryweather-Clarke et al. 2003). Missense, nonsense, and small deletions have been reported in only exon 2 and 3 of the HAMP gene (Goldberg 2011). Substitution variants disrupting the HAMP promoter (c.-153C>T) and 5’UTR through generation of a cryptic kozak sequence (c.-25G>A) have also been reported to be causative for JHH (Island et al. 2009; Matthes et al. 2004). Gross deletions have not been reported in the HAMP gene. The HAMP gene encodes the protein hepcidin which is a negative regulator and inhibits iron absorption (Santos et al. 2012).

Clinical Sensitivity - Sequencing with CNV PGxome

Pathogenic variants in the HAMP gene are predicted to account for about 10% of all JHH cases (Goldberg 2011). Analytical sensitivity should be high because all reported pathogenic variants are detectable by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the HAMP gene 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 full 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).

This test also provides coverage of the following variants upstream of the start codon: c.-153 C>T, c.-72 C>T, c.-28 G>T, and c.-25 G>A.

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 testing include individuals with biochemical testing showing elevated serum ferritin concentration (1000 to 7000μg/L) and elevated transferrin-iron saturation. Individuals with JHH also may have MRI imaging indicating hepatic iron overload (Goldberg 2011). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in HAMP.

Gene

Official Gene Symbol OMIM ID
HAMP 606464
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Hemochromatosis Type 2B 613313

Citations

  • Goldberg Y.P. 2011. Juvenile Hereditary Hemochromatosis. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301349
  • Goldberg Y.P. 2011. Juvenile Hereditary Hemochromatosis. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301349
  • Goldberg Y.P. 2011. Juvenile Hereditary Hemochromatosis. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301349
  • Goldberg Y.P. 2011. Juvenile Hereditary Hemochromatosis. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301349
  • Island M.L. et al. 2009. Haematologica. 94: 720-4. PubMed ID: 19286879
  • Lanzara C. et al. 2004. Blood. 103: 4317-21. PubMed ID: 14982873
  • Matthes T. et al. 2004. Blood. 104: 2181-3. PubMed ID: 15198949
  • Merryweather-Clarke AT. et al. 2003. Human Molecular Genetics. 12: 2241-7. PubMed ID: 12915468
  • Santos P.C. et al. 2012. International Journal of Molecular Sciences. 13: 1497-511. PubMed ID: 22408404
  • Santos P.C. et al. 2012. International Journal of Molecular Sciences. 13: 1497-511. PubMed ID: 22408404

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