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HelpTest Code 2522799039 Uncovering Rare Obesity Gene Panel
Clinical System Name
Uncovering Rare Obesity Gene Panel
Description
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
This panel includes sequencing and CNV detection of 87 genes: ADCY3, AFF4, ALMS1, ARL6, ASIP, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, CEP164, CEP290, CFAP418, CPE, CREBBP, CUL4B, DNMT3A, DYRK1B, EP300, GNAS, HTR2C, IFT172, IFT27, IFT74, INPP5E, ISL1, KIDINS220, KSR2, LEP, LEPR, LRRC45, LZTFL1, MAGEL2, MC3R, MC4R, MECP2, MKKS, MKS1, MRAP2, NCOA1, NPHP1, NR0B2, NRP1, NRP2, NTRK2, PCNT, PCSK1, PHF6, PHIP, PLXNA1, PLXNA2, PLXNA3, PLXNA4, POMC, PPARG, PROK2, RAB23, RAI1, RPGRIP1L, RPS6KA3, SCAPER, SCLT1, SDCCAG8, SEMA3A, SEMA3B, SEMA3C, SEMA3D, SEMA3E, SEMA3F, SEMA3G, SH2B1, SIM1, TBX3, TMEM67, TRIM32, TRPC5, TTC21B, 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: Buccal
Specimen: DNA
Container(s): Sterile plastic tube
Preferred Vol: 10 µg of purified DNA at a concentration of at least 100 ng/μL
Minimum Vol: 5 µg of purified DNA at a concentration of at least 100 ng/μL
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/Genetic
Phone: (206) 987-2563
Reference Range
Interpretive report provided.
Methodology
This panel typically provides 99.92% 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.
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 |