Familial Partial Lipodystrophy (FPLD) Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
12605 ADRA2A 81479,81479 Order Options and Pricing
AKT2 81479,81479
CAV1 81479,81479
CIDEC 81479,81479
LIPE 81479,81479
LMNA 81406,81479
LMNB2 81479,81479
PLIN1 81479,81479
POLD1 81479,81479
PPARG 81479,81479
PSMA3 81479,81479
PSMB4 81479,81479
PSMB8 81479,81479
PSMB9 81479,81479
TBC1D4 81479,81479
ZMPSTE24 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
12605Genes x (16)81479 81406, 81479 $890 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

Familial partial lipodystrophies (FPLD) are a group of heterogeneous disorders characterized by selective loss of adipose tissue (Akinci et al. 2018. PubMed ID: 30406415). Subcutaneous fat loss is predominantly observed in the upper extremities, lower extremities, as well as the gluteal and pelvic regions (Ajluni et al. 2017. PubMed ID: 28199729; Lightbourne and Brown. 2017. PubMed ID: 28476236). The exact patterning and regional loss of adipose tissue is highly variable. Adipose tissue sparing and even accumulation may also be observed in the neck, trunk and abdomen of some affected individuals (Ajluni et al. 2017. PubMed ID: 28199729). Onset typically occurs anytime from late childhood through to adulthood. The exact prevalence of FPLD is unknown, but is estimated at approximately 3 cases per million individuals (Chiquette et al. 2017. PubMed ID: 29066925).

At least six main subtypes of FPLD have been described and are associated with pathogenic variation in the CIDEC, LIPE, LMNA, PLIN1, and PPARG genes (Jeru et al. 2017. PubMed ID: 27485410; Lightbourne and Brown. 2017. PubMed ID: 28476236). Several additional genes are also reported to be associated with partial lipodystrophy, although this may be a clinical feature of a broader syndrome (ADRA2A, AKT2, CAV1, LMNB2, POLD1, PSMA3, PSMB4, PSMB8, PSMB9, TBC1D4, and ZMPSTE24). Clinical features may include partial lipodystrophy, a muscular appearance, non-alcoholic steatohepatitis, hypertriglyceridemia, insulin-resistant diabetes mellitus, proteinuria, microalbuminuria, hypertension, peripheral neuropathy, muscular dystrophy, myalgia, gallbladder disease, pancreatitis, as well as cardiovascular disease (Ajluni et al. 2017. PubMed ID: 28199729). Female patients may also exhibit mild hirsutism, irregular menstrual periods, and polycystic ovarian disease (Garg. 2004. PubMed ID: 10843151). Medical management may include surveillance, psychological support, restriction of total fat intake, caloric restriction, increased physical activity, therapy for diabetes mellitus and hyperlipidemia, and possibly cosmetic surgery (Akinci et al. 2018. PubMed ID: 30370487). Genetic testing may aide in establishing a differential diagnosis, predicting the course of disease, and may assist reproductive planning.

Pathogenic variants in one or more of these genes included as part of this panel are reported to be associated with additional phenotypes including (but not limited to) congenital generalized lipodystropy, progeroid syndromes, insulin resistance, severe obesity, skeletal dysplasia, neuropathy, muscular dystrophy, dermopathy, colorectal cancer, epilepsy susceptibility, and pulmonary hypertension.

Genetics

FPLD and associated syndromes may be inherited in an autosomal dominant (ADRA2A, AKT2, CAV1, LMNA, LMNB2, PSMA3, PLIN1, POLD1, PPARG, TBC1D4) or recessive manner (CIDEC, LIPE, PSMB4, PSMB8, PSMB9, ZMPSTE24). Pathogenic variants may be inherited from a carrier parent, an affected parent, or arise de novo (Garg et al. 2016. PubMed ID: 27376152; Lightbourne and Brown. 2017. PubMed ID: 28476236). FPLD is associated with small deletions, nonsense, splice site, frameshift, missense, and regulatory pathogenic variants. To date, structural variants have been reported only in isolated and familial cases of a related disorder, congenital generalized lipodystrophy (Agarwal et al. 2002. PubMed ID: 11967537; Purizaca-Rosillo et al. 2017. PubMed ID: 27868354). Pathogenic variants in the LMNA and PPARG genes are estimated to account for more than 50% of all cases of FPLD (Jeru et al. 2017. PubMed ID: 27485410). More than 80% of pathogenic variants associated with FPLD in the LMNA gene localize to a hotspot at arginine residue 482 (Jeru et al. 2017. PubMed ID: 27485410).

Although the function of some of the genes included in this panel are yet to be fully elucidated, several are known to be involved in adipogenesis, lipolysis, and biogenesis of caveolae (Holm et al. 1988. PubMed ID: 3420405; Peng et al. 2003. PubMed ID: 12782654; Evans et al. 2004. PubMed ID: 15057233; Capanni et al. 2005. PubMed ID: 15843404; Puri et al. 2007. PubMed ID: 17884815; Bosch et al. 2011. PubMed ID: 21497090).

See individual gene summaries for more information about the molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

Due to the genetic heterogeneity of FPLD, the clinical sensitivity of this specific grouping of genes is difficult to estimate. However, pathogenic variants in the LMNA and PPARG genes are estimated to account for more than 50% of all cases of FPLD (Jeru et al. 2017. PubMed ID: 27485410). Outside of these two genes, pathogenic variants explain only a small subset of FPLD cases.

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 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 partial familial lipodystrophy.

Genes

Official Gene Symbol OMIM ID
ADRA2A 104210
AKT2 164731
CAV1 601047
CIDEC 612120
LIPE 151750
LMNA 150330
LMNB2 150341
PLIN1 170290
POLD1 174761
PPARG 601487
PSMA3 176843
PSMB4 602177
PSMB8 177046
PSMB9 177045
TBC1D4 612465
ZMPSTE24 606480
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Acquired Partial Lipodystrophy AD 608709
Benign Scapuloperoneal Muscular Dystrophy With Cardiomyopathy AD 181350
Charcot-Marie-Tooth Disease Type 2B1 AR 605588
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome AR 256040
Colorectal cancer, susceptibility to, 10 AD 612591
Diabetes Mellitus, Noninsulin-Dependent AD 125853
Dilated Cardiomyopathy 1A AD 115200
Emery-Dreifuss muscular dystrophy 3, AR AR 616516
Epilepsy, Progressive Myoclonic, 9 AR 616540
Heart-Hand Syndrome, Slovenian Type AD 610140
Hutchinson-Gilford Syndrome AR 176670
Hypoglycemia, Neonatal, Simulating Foetopathia Diabetica AD 240900
Lipodystrophy, Congenital Generalized, Type 3 AR 612526
Lipodystrophy, Familial Partial, Type 2 AD 151660
Lipodystrophy, Familial Partial, Type 3 AD 604367
Lipodystrophy, Familial Partial, Type 4 AD 613877
Lipodystrophy, familial partial, type 5 AR 615238
Lipodystrophy, familial partial, type 6 AR 615980
Malouf Syndrome AD 212112
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome AD 615381
Mandibuloacral Dysplasia With Type A Lipodystrophy AR 248370
Mandibuloacral Dysplasia With Type B Lipodystrophy AR 608612
Muscular Dystrophy, Congenital, LMNA-Related AD 613205
Obesity AR 601665
Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome AD 606721
Proteasome-associated autoinflammatory syndrome 3 and digenic forms AR 617591
Pulmonary hypertension, primary, 3 AD 615343
Restrictive Dermopathy, Lethal AR 275210
{Diabetes mellitus, noninsulin-dependent, 5} AD 616087

Related Tests

Name
PGxome®
CANDLE Syndrome via the PSMB8 Gene
Congenital Generalized Lipodystrophy (CGL) Panel
Laminopathies via the LMNA Gene
Lipodystrophy and Heritable Pulmonary Arterial Hypertension via the CAV1 Gene

Citations

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

loading Loading... ×

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.

Total Price: $
×
Copy Text to Clipboard
×