Hypomagnesemia Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
3025 BSND 81479,81479 Order Options and Pricing
CASR 81405,81479
CLDN16 81479,81479
CLDN19 81479,81479
CNNM2 81479,81479
EGF 81479,81479
EGFR 81479,81479
FAM111A 81479,81479
FXYD2 81479,81479
HNF1B 81405,81404
KCNA1 81479,81479
KCNJ10 81404,81479
PCBD1 81479,81479
SARS2 81479,81479
SLC12A3 81407,81479
TRPM6 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
3025Genes x (16)81479 81404, 81405, 81407, 81479 $930 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 PGxome Custom Panel tool.

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

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

Clinical Features and Genetics

Clinical Features

Hereditary hypomagnesemia comprises a group of disorders with either primary or secondary renal magnesium ion wasting (Viering et al. 2016; Konrad et al. 2014). Symptoms as consequences of hypomagnesemia vary in severity ranging from leg cramps and tiredness, hypoparathyroidism, to seizures, cardiac arrhythmias, coma and even death. In terms of clinical manifestations, electrolyte abnormalities, localization and pathophysiological mechanism, genetic causes of hypomagnesemia are classified into four categories: hypercalciuric hypomagnesemias, Gitelman-like hypomagnesemias, mitochondrial hypomagnesemias and other hypomagnesemias.

Genetics

Hereditary hypomagnesemia is a group of highly genetically heterogeneous diseases. To date, at least 16 genes have been linked to a monogenic form of hypomagnesemia in autosomal dominant or recessive inheritance as listed below (Viering et al. 2016; Konrad et al. 2014). The spectrum of pathogenic variant throughout these genes includes all types of changes.

Autosomal dominant: CASR, CNNM2, FAM111A, FXYD2, HNF1B, and KCNA1

Autosomal recessive: BSND, CLDN16, CLDN19, EGF, EGFR, KCNJ10, PCBD1, SARS2, SLC12A3, and TRPM6

As mentioned above, in terms of clinical manifestations, electrolyte abnormalities, localization and pathophysiological mechanism, genetic causes of hypomagnesemia are classified into four categories (Viering et al. 2016). All known genes encode proteins expressed in the thick ascending limb of Henle’s loop (TAL) and/or distal convoluted tubule (DCT).

Hypercalciuric hypomagnesemias: CLDN16, CLDN19, CASR

Gitelman-like hypomagnesemias: BSND, FXYD2, HNF1B, KCNJ10, PCBD1, SLC12A3

Mitochondrial hypomagnesemias: SARS2

Other hypomagnesemias: CNNM2, EGF, EGFR, FAM111A, KCNA1, TRPM6

Our current panel does not include the CLCNKB gene (Bartter syndrome, type 3) due to next generation sequencing technology’s limitations at dealing with pseudogenes.

See individual gene test descriptions for more information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

Screenings for pathogenic variants in the associated genes in a large cohort of patients with hypomagnesemia have not been reported. To date, studies have focused on individual genes in a limited number of families per study. Therefore, the mutation detection rate of this panel is difficult to predict.

Large deletions and/or duplications appear to be relatively common in Human Gene Mutation Database (HGMD) in these genes: HNF1B, SLC12A3 and TRPM6.

Large deletions and/or duplications have been documented in HGMD in these genes but are relatively uncommon: BSND, CASR, CLDN16, CLDN19, and KCNA1.

No large deletions or duplications have been reported in the other 8 genes of the current panel.

Testing Strategy

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

This panel provides 100% 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 full coverage as >20X NGS reads or Sanger sequencing.

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

Indications for Test

Candidates for this test are patients with hypomagnesemia either primarily or secondarily. This test especially aids in a differential diagnosis of similar phenotypes by analyzing multiple genes simultaneously.

Genes

Official Gene Symbol OMIM ID
BSND 606412
CASR 601199
CLDN16 603959
CLDN19 610036
CNNM2 607803
EGF 131530
EGFR 131550
FAM111A 615292
FXYD2 601814
HNF1B 189907
KCNA1 176260
KCNJ10 602208
PCBD1 126090
SARS2 612804
SLC12A3 600968
TRPM6 607009
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • Konrad M., Schlingmann K.P. 2014. Nephrology, Dialysis, Transplantation. 29 Suppl 4: iv63-71. PubMed ID: 25165187
  • Viering D.H. et al. 2016. Pediatric Nephrology. 0: N/A. PubMed ID: 27234911

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.

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

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


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.

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