Type 6 Familial Partial Lipodystrophy via the LIPE 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
13073 LIPE 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
13073LIPE81479 81479(x2) $890 Order Options and Pricing

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).

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

Pathogenic variants in the LIPE gene are associated with type 6 familial partial lipodystrophy (FPLD), a rare disorder characterized by abnormal subcutaneous fat distribution and metabolic and endocrine dysfunction. This disorder is also referred to as hormone-sensitive lipase deficiency. Subcutaneous fat loss is predominantly observed in the lower extremities. Abnormal subcutaneous fat accumulation may be observed in the neck, clavicular regions, axillae, back, triceps, and external female genitalia (Albert. 2014. PubMed ID: 24848981; Farhan et al. 2014. PubMed ID: 25475467; Carboni et al. 2014. PubMed: 24375490; Zolotov et al. 2017. PubMed ID: 27862896). Visceral fat accumulation may also be observed. The exact patterning of subcutaneous fat may vary between individuals. Metabolic and endocrine features may include type 2 diabetes mellitus, dyslipidemia, hepatic steatosis, insulin resistance, and increased serum creatine kinase levels. Some individuals may develop myopathy or mild skeletal muscle abnormalities. Endocrine and metabolic anomalies may be evident in early adulthood. Partial lipodystrophy and myopathy may become evident during adulthood. It should be noted that a limited number of cases have been reported and that some features may be variable.

The exact prevalence of FPLD is unknown, but is estimated at approximately 3 cases per million individuals (Chiquette et al. 2017. PubMed ID: 29066925). FPLD is associated with pathogenic variants in several genes. Genetic testing may aide in establishing a differential diagnosis and may assist reproductive planning.

Genetics

Pathogenic variants in the LIPE gene are associated with autosomal recessive type 6 FPLD. A homozygous nonsense variant and 2 homozygous frameshift variants have been reported in 9 individuals with type 6 FLD from 3 unrelated consanguineous families of Isralei-Arab, Italian and Old Order Amish descent (Albert. 2014. PubMed ID: 24848981; Farhan et al. 2014. PubMed ID: 25475467; Carboni et al. 2014. PubMed: 24375490; Zolotov et al. 2017. PubMed ID: 27862896). Of note, heterozygous individuals may be at increased risk of developing type 2 diabetes mellitus (Albert. 2014. PubMed ID: 24848981). To date, all pathogenic variants have been inherited from a carrier parent. No structural variants have been reported.

The LIPE gene encodes hormone sensitive lipase (HSL), a  ubiquitously expressed enzyme that has multiple roles in lipid metabolism including catalyzing hormone-stimulated lipolysis in adipocytes, steroidogenesis, and spermatogenesis (Haemmerle et al. 2003. PubMed ID: 12840660; Yeaman. 2004. PubMed ID: 14725507). LIPE has been cited as a nonessential gene for growth of human tissue culture cells (Online Gene Essentiality, ogee.medgenius.info). Experimental studies of adipose tissue from individuals with type 6 FPLD demonstrate decreased LIPE mRNA, absence of HSL protein, impaired lipolysis, insulin resistance, and inflammation (Albert et al. 2014. PubMed ID: 24848981). HSL-deficient mice are not obese, but with age display phenotypic similarities to partial lipodystropy (Osuga et al. 2000. PubMed ID: 10639158). In addition, male HSL-deficient mice are sterile due to oligospermia.

Clinical Sensitivity - Sequencing with CNV PGxome

The clinical sensitivity of type 6 FPLD is difficult to estimate, as to date, a limited number of cases have been described in the literature (Albert. 2014. PubMed ID: 24848981; Farhan et al. 2014. PubMed ID: 25475467; Carboni et al. 2014. PubMed: 24375490; Zolotov et al. 2017. PubMed ID: 27862896). Analytical sensitivity should be high as all pathogenic variants reported to date are detectable by sequencing.

Testing Strategy

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

This test provides full coverage of all coding exons of the LIPE gene plus 10 bases flanking noncoding DNA in all available transcripts in addition to 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 is performed using Next-Generation sequencing on our exome backbone. There is the option to reflex to whole exome sequencing (PGxome).

Indications for Test

Candidates for this test are patients with clinical features consistent with a diagnosis of familial partial lipodystrophy with or without features of muscular dystrophy. Targeted testing is indicated for family members of patients who have known pathogenic variants in LIPE. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LIPE.

Gene

Official Gene Symbol OMIM ID
LIPE 151750
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Lipodystrophy, familial partial, type 6 AR 615980

Related Tests

Name
Familial Partial Lipodystrophy (FPLD) Panel
Generalized, Partial and Atypical Lipodystrophy Panel

Citations

  • Albert et al. 2014. PubMed ID: 24848981
  • Carboni et al. 2014. PubMed ID: 24375490
  • Chiquette et al. 2017. PubMed ID: 29066925
  • Farhan et al. 2014. PubMed ID: 25475467
  • Haemmerle et al. 2003. PubMed ID: 12840660
  • Online Gene Essentiality.
  • Osuga et al. 2000. PubMed ID: 10639158
  • Yeaman SJ. 2004. PubMed ID: 14725507
  • Zolotov et al. 2017. PubMed ID: 27862896

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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