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HelpTest Code 2522799039 Uncovering Rare Obesity Gene Panel
Clinical System Name
Uncovering Rare Obesity Gene Panel
Description
Obesity is defined as an increase in fat mass that is sufficient to adversely affect health and reduce longevity. 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.
To be eligible for testing, patients must meet one of the following criteria:
- ≤18 years of age, BMI ≥97th percentile or
- ≥19 years of age, BMI ≥40, and a history of childhood obesity
Gene List: ADCY3, AFF4, ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, CEP290, CFAP418, CPE, CREBBP, CUL4B, DNMT3A, DYRK1B, EP300, GNAS, HTR2C, IFT172, IFT27, IFT74, INPP5E, ISL1, KIDINS220, KSR2, LEP, LEPR, LZTFL1, MAGEL2, MC3R, MC4R, MECP2, MKKS, MKS1, MRAP2, NCOA1, NR0B2, NRP1, NRP2, NTRK2, PCNT, PCSK1, PHF6, PHIP, PLXNA1, PLXNA2, PLXNA3, PLXNA4, POMC, PPARG, PROK2, RAB23, RAI1, RPGRIP1L, RPS6KA3, SDCCAG8, SEMA3A, SEMA3B, SEMA3C, SEMA3D, SEMA3E, SEMA3F, SEMA3G, SH2B1, SIM1, TBX3, TRIM32, TRPC5, TTC8, TUB, UCP3, VPS13B, WDPCP
Sample Requirements
Specimen: Whole Blood
Container(s): Lavender Top/EDTA, Yellow/ACD
Preferred Vol: 5 mL
Minimum Vol: 3 mL (1 mL for small infants)
Specimen: DNA
Container(s): Sterile plastic tube
Preferred Vol: 10 µg of purified DNA at a concentration of at least 20 µg/ml
Minimum Vol: 5 µg of purified DNA at a concentration of at least 20 µg/ml
Alternative Specimen (e.g. salvia or buccal): Alternate Specimen Collection Kits for Genetic Testing
Processing Instructions
Reject due to:
Spin: N
Aliquot: N
Temp: 2 - 4 C
Storage location: Do not spin. Deliver blood to the Send Outs refrigerator rack.
Off-site collection:
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole blood | Room temp | 3 d |
| Whole blood | Refrigerated | 7 d |
| Whole blood | Frozen | N |
| Extracted DNA | Room temp | 3-4 d |
| Extracted DNA | Refrigerated | 1 y |
| Extracted DNA | Frozen | Indefinitely |
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | Drawn daily | 3-4 w |
Performing Laboratory
PreventionGenetics
3800 South Business Park Avenue
Marshfield, WI 54449
Phone Number: (715) 387-0484
Department
Department: Send Outs
Phone: (206) 987-2563
Reference Range
Interpretive report provided.
Methodology
Method: This test is performed using Next-Gen sequencing.
Special Instructions
Clinical Utility
Obesity is defined as an increase in fat mass that is sufficient to adversely affect health and reduce longevity. 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.
Syndromic obesity includes a heterogeneous group of disorders where excessive weight gain is accompanied by intellectual disability, developmental delays, and/or congenital anomalies. Examples include Bardet Biedl, Alstrom, and Borjeson-Forssman-Lehmann syndromes. This panel sequences genes with clinical and/or molecular evidence suggesting a role in human obesity.
Send Out Instructions
| Reference Test Name: | Uncovering Rare Obesity Gene Panel |
| Reference Test Number: | SP068 |
| Instructions: |
Ship whole blood overnight, ambient temperature. PreventionGenetics accepts Saturday delivery |