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Paroxysmal Paralytic Rhabdomyolysis via the LPIN1 Gene

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
8087 LPIN1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8087LPIN181479 81479,81479 $890 Order Options and Pricing

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. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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).

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

For Sanger Sequencing click here.

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

  • McKenna Kyriss, PhD

Clinical Features and Genetics

Clinical Features

Familial paroxysmal paralytic rhabdomyolysis with myoglobinuria (OMIM 268200), also known as childhood recurrent acute myoglobinuria is a rare and life-threatening disease of young children, in which prompt diagnosis and treatment are critical (Tein et al. Adv Pediater 37:77-117, 1990). Early symptoms typically begin before the age of seven years and consist of generalized weakness, inability to walk, myalgia, and dark urine. Recurrent episodes of myoglobinuria are frequent features of the disease. Additional features include cardiac abnormalities, marked sensitivity over the thighs and calf muscles, muscle hypotonia, and renal failures. The episodes are triggered by febrile illnesses and persist for several days; they are characterized by concomitant elevated levels of plasma creatine kinase and aspartate aminotransferase (Ramesh and Gardner-Medwin, Dev Med Child Neurol 34:73-79, 1992; Zeharia et al. Am J Hum Genet 83:489-494, 2008).

Genetics

Familial cases of paroxysmal paralytic rhabdomyolysis with myoglobinuria have been reported (Christensen et al. Danish Med Bull 30:112-115, 1983; Ramesh and Gardner-Medwin, Dev Med Child Neurol 34:73-79, 1992). In these families, the disease appeared to be transmitted as an autosomal recessive trait. It is caused by variants in the LPIN1 gene (Zeharia et al. Am J Hum Genet 83:489-494, 2008). Variants include nonsense, missense, splicing, small deletions or insertions, and one 2-kb deletion that spans exons 18-19. This deletion appears to be common in patients of European ancestry (Michot et al. Hum Mutat 31:E1564-1573, 2010). LPIN1 variants were reported in patients from various populations. The LPIN1 gene encodes Lipin-1, phosphatidic acid phosphatase, which catalyzes the conversion of phosphatidic acid to diacylglycerol in the triacylglycerol synthesis pathway.

Clinical Sensitivity - Sequencing with CNV PGxome

This test may detect variants in ~60% of patients with a clinical diagnosis as described.

Testing Strategy

This test provides full coverage of all coding exons of the LPIN1 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).

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

Children presenting with recurrent episodes of myoglobinuria associated with elevated levels of plasma creatine kinase. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LPIN1.

Gene

Official Gene Symbol OMIM ID
LPIN1 605518
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Myoglobinuria, Acute Recurrent, Autosomal Recessive AR 268200

Related Test

Name
Paroxysmal Paralytic Rhabdomyolysis via the LPIN1 Gene, Exons 18-19 Deletion

Citations

  • Christensen, T. E., et.al. (1983). "Familial myoglobinuria. A study of muscle and kidney pathophysiology in three brothers." Dan Med Bull 30(2): 112-5. PubMed ID: 6851679
  • Michot, C., et.al. (2010). "LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood." Hum Mutat 31(7): E1564-73. PubMed ID: 20583302
  • Ramesh, V., Gardner-Medwin, D. (1992). Familial paroxysmal rhabdomyolysis: management of two cases of the non-exertional type. Dev Med Child Neurol 34(1): 73-9. PubMed ID: 1544519
  • Tein, I., et.al. (1990). Recurrent childhood myoglobinuria. Adv Pediatr 37: 77-117. PubMed ID: 2264536
  • Zeharia, A., et.al. (2008). "Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood." Am J Hum Genet 83(4): 489-94. PubMed ID: 18817903

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

View Ordering Instructions

1) Select Test Method (Backbone)


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.

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