Comprehensive Monogenic Obesity Panel

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10613 ADCY3 81479,81479 Order Options and Pricing
ALMS1 81479,81479
ARL6 81479,81479
BBIP1 81479,81479
BBS1 81406,81479
BBS10 81404,81479
BBS12 81479,81479
BBS2 81406,81479
BBS4 81479,81479
BBS5 81479,81479
BBS7 81479,81479
BBS9 81479,81479
BDNF 81479,81479
C8orf37 81479,81479
CEP290 81408,81479
CPE 81479,81479
CUL4B 81479,81479
DYRK1B 81479,81479
GNAS 81479,81479
IFT172 81479,81479
IFT27 81479,81479
IFT74 81479,81479
KSR2 81479,81479
LEP 81479,81479
LEPR 81406,81479
LZTFL1 81479,81479
MAGEL2 81479,81479
MC3R 81479,81479
MC4R 81403,81479
MCHR1 81479,81479
MKKS 81479,81479
MKS1 81479,81479
MRAP2 81479,81479
NCOA1 81479,81479
NR0B2 81479,81479
NTRK2 81479,81479
PCSK1 81479,81479
PHF6 81479,81479
POMC 81479,81479
PPARG 81479,81479
RAB23 81479,81479
RAI1 81405,81479
SDCCAG8 81479,81479
SH2B1 81479,81479
SIM1 81479,81479
TMEM67 81407,81479
TRIM32 81479,81479
TTC8 81479,81479
TUB 81479,81479
UCP3 81479,81479
VPS13B 81408,81407
WDPCP 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10613Genes x (52)81479 81403, 81404, 81405, 81406, 81407, 81408, 81479 $790 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.

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Obesity is defined as an increase in fat mass that is sufficient to adversely affect health and reduce longevity (Fontaine et al. 2003. PubMed ID: 12517229). Clinically, adults with a body-mass index (BMI) greater than 30 kg/m2 are considered obese. BMI is a multifactorial trait that is usually influenced by multiple genes (Gusev et al. 2014. PubMed ID: 25439723), as well as environmental and lifestyle factors. However, in some cases obesity is inherited by a monogenetic mechanism due to pathogenic variants in a single gene. Monogenic obesity can be non-syndromic, occurring as an isolated feature, or syndromic, occurring as a co-morbidity of a complex phenotype.

The phenotype of non-syndromic monogenic obesity is typically severe and early-onset. Infants experience rapid weight gain in the first year of life and reach a BMI > 3 standard deviations above the mean. Associated features include hyperphagia, increased linear growth, delayed puberty, preserved reproductive function, hypocortisolemia and hyperinsulinemia (Albuquerque et al. 2015. PubMed ID: 25749980; Pigeyre et al. 2016. PubMed ID: 27154742).

Syndromic obesity includes a heterogeneous group of disorders where obesity is one of many clinical features. In some cases, such as Prader-Willi syndrome, obesity is a defining feature of the clinical picture. In others, such as Smith-Magenis syndrome, the obesity phenotype can be variable. This panel is designed to sequence all genes for which obesity is a common feature.

Genetics

Monogenic non-syndromic obesity can be sporadic or inherited by autosomal dominant or recessive modes. The largest genetic contributors to this phenotype include genes controlling energy balance via the leptin-melanocortin signaling pathway (LEP, LEPR, POMC, PCSK1, MC4R, and SIM1). Additional genes are involved in cell proliferation and differentiation via tyrosine kinase signaling cascades (BDNF, NTRK2, SH2B1, and KSR2; Pigeyre et al. 2016. PubMed ID: 27154742).

Monogenic syndromic obesity is frequently sporadic, but can also be inherited by x-linked, autosomal recessive, and autosomal dominant patterns. Approximately forty genes are known to cause syndromic obesity. Nearly half of the genes are associated with Bardet-Biedl syndrome and other ciliopathies.

Testing Strategy

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

This panel typically provides 99.9% 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.

Clinical Sensitivity - Sequencing with CNV PG-Select

It is difficult to estimate the clinical sensitivity of this test given the heterogeneous phenotypes represented and the significant contribution of environment to obesity. For the MC4R gene alone, the prevalence of pathogenic variants is predicted to be 0.5 - 1% in obese adults and up to 6% in severely obese children (Farooqi and O'Rahilly. 2005. PubMed ID: 15660521; Farooqi et al. 2003. PubMed ID: 12646665). This range in prevalence demonstrates that sensitivity is strongly influenced by the severity and onset of symptoms.

The analytical sensitivity of this test is expected to be high since this Next-Generation sequencing test is designed to detect nearly all clinically relevant sequence and copy number variants in genes that cause monogenic obesity. This test will not detect imprinting defects, uniparental disomy, or balanced translocations. If those mechanisms are suspected, additional testing may be indicated.

Indications for Test

Candidates for this test are patients with early onset non-syndromic obesity or patients suspected to have a syndrome with obesity as a predominant feature.

Diseases

Name Inheritance OMIM ID
Abdominal obesity-metabolic syndrome 3 AD 615812
Alstrom Syndrome AR 203800
Bardet-Biedl Syndrome 10 AR 615987
Bardet-Biedl Syndrome 11 AR 615988
Bardet-Biedl Syndrome 12 AR 615989
Bardet-Biedl Syndrome 13 AR 615990
Bardet-Biedl Syndrome 14 AR 615991
Bardet-Biedl Syndrome 15 AR 615992
Bardet-Biedl Syndrome 16 AR 615993
Bardet-Biedl Syndrome 17 AR 615994
Bardet-Biedl Syndrome 18 AR 615995
Bardet-Biedl Syndrome 19 AR 615996
Bardet-Biedl Syndrome 2 AR 615981
Bardet-Biedl Syndrome 20 AR 617119
Bardet-Biedl Syndrome 21 AR 617406
Bardet-Biedl Syndrome 3 AR 600151
Bardet-Biedl Syndrome 4 AR 615982
Bardet-Biedl Syndrome 5 AR 615983
Bardet-Biedl Syndrome 6 AR 605231
Bardet-Biedl Syndrome 7 AR 615984
Bardet-Biedl Syndrome 8 AR 615985
Bardet-Biedl Syndrome 9 AR 615986
Body Mass Index Quantitative Trait Locus 12 AR 612362
Body Mass Index Quantitative Trait Locus 9 602025
Borjeson-Forssman-Lehmann Syndrome XL 301900
Carpenter Syndrome AR 201000
Cohen Syndrome AR 216550
Cone-rod dystrophy 16 AR 614500
Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait XL 300354
Obesity AR, AD 601665
Obesity, Hyperphagia, And Developmental Delay AD 613886
Obesity, Morbid, Due to Leptin Deficiency AR 614962
Obesity, Morbid, Due to Leptin Receptor Deficiency 614963
Obesity, susceptibility to, BMIQ18 AD 615457
Obesity, susceptibility to, BMIQ19 AR 617885
Proopiomelanocortin Deficiency AR 609734
Proprotein Convertase 1/3 Deficiency AR 600955
Pseudohypoparathyroidism Type 1A AD 103580
Pseudohypoparathyroidism Type 1C AD 612462
Pseudopseudohypoparathyroidism AD 612463
Retinal Dystrophy and Obesity AR 616188
Schaaf-Yang Syndrome AD 615547
Short-Rib Thoracic Dysplasia 10 with or without Polydactyly AR 615630
Smith-Magenis Syndrome AD 182290

Related Test

Name
PGxome®
Monogenic Obesity via the MC4R Gene

Citations

  • Albuquerque et al. 2015. PubMed ID: 25749980
  • Farooqi and O'Rahilly. 2005. PubMed ID: 15660521
  • Farooqi et al. 2003. PubMed ID: 12646665
  • Fontaine et al. 2003. PubMed ID: 12517229
  • Gusev et al. 2014. PubMed ID: 25439723
  • Pigeyre et al. 2016. PubMed ID: 27154742

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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