Early-onset severe obesity

Genetic test Export to PDF

Full name:	Early-onset severe obesity
Description:	Gene Panel
Test type:	Clinical
Test specialty:	Molecular Genetics
Test purpose:	Post-natal Diagnosis
Specimen:	Peripheral (whole) blood on EDTA
Method category:	Sequence analysis: entire coding region Deletion/duplication analysis
Method technique:	Next Generation Sequencing (NGS) MLPA based techniques
Laboratory:	Centre de Génétique Humaine - CHU Sart-Tilman
RIZIV code:	565493-565504
Accreditation (ISO 15189):	2022-02-24 / 2026-02-23
Turnaround time (maximum):	6 month
Document(s):	formulaire clinique Panel OB v4.pdf425.09 KB Descriptif technique twist OBZT_v6.docx14.54 KB HMG.OBZT_.ANA_.A06 - Descriptif gènes panel OBZT - Cliniciens.xlsx72.28 KB
Created:	13 Dec 2019 - 10:57
Changed:	27 Apr 2023 - 17:10

Related Diseases

• Abdominal obesity-metabolic syndrome 3
• Alström syndrome
• Autosomal dominant non-syndromic intellectual disability
• Bardet-Biedl syndrome
• Borjeson-Forssman-Lehmann syndrome
• Carpenter syndrome
• Congenital central hypoventilation syndrome
• Cushing syndrome due to bilateral macronodular adrenocortical disease
• Infantile spasms syndrome
• Joubert syndrome
• Joubert syndrome with hepatic defect
• Joubert syndrome with ocular defect
• Joubert syndrome with oculorenal defect
• MAGEL2-related Prader-Willi-like syndrome
• Meckel syndrome
• Non-specific syndromic intellectual disability
• Obesity due to SIM1 deficiency
• Obesity due to congenital leptin deficiency
• Obesity due to leptin receptor gene deficiency
• Obesity due to melanocortin 4 receptor deficiency
• Obesity due to pro-opiomelanocortin deficiency
• Obesity due to prohormone convertase I deficiency
• Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
• Rubinstein-Taybi syndrome due to CREBBP mutations
• Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
• Senior-Loken syndrome
• Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
• Sotos syndrome
• Ulnar-mammary syndrome
• WAGR syndrome

Related Laboratories

• Centre de Génétique Humaine - CHU Sart-Tilman

Related Analytes

• ADCY3
• ALMS1
• ARL6
• BBIP1
• BBS1
• BBS10
• BBS12
• BBS2
• BBS4
• BBS5
• BBS7
• BBS9
• BDNF
• CEP290
• CREBBP
• DYRK1B
• EP300
• GNAS
• IFT27
• INPP5E
• LEP
• LEPR
• LZTFL1
• MAGEL2
• MC3R
• MC4R
• MKKS
• MKS1
• MRAP2
• MYT1L
• NTRK2
• PCSK1
• PHF6
• POMC
• RAB23
• SDCCAG8
• SETD2
• SH2B1
• SIM1
• TBX3
• TRIM32
• TTC8
• TUB
• WDPCP

Related Gene Panels

• Early-onset severe obesity (44 genes) - ULG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ADCY3	100.00	0	only for coding exons and intronic borders +/-14pb
  ALMS1	100.00	0	only for coding exons and intronic borders +/-14pb
  BBS1	100.00	0	only for coding exons and intronic borders +/-14pb
  BBS2	100.00	0	only for coding exons and intronic borders +/-14pb
  ARL6	100.00	0	only for coding exons and intronic borders +/-14pb
  BBS4	100.00	0	only for coding exons and intronic borders +/-14pb
  BBS5	100.00	0	only for coding exons and intronic borders +/-14pb
  MKKS	100.00	0	only for coding exons and intronic borders +/-14pb
  BBS7	100.00	0	only for coding exons and intronic borders +/-14pb
  TTC8	100.00	0	only for coding exons and intronic borders +/-14pb
  BBS9	99.99	0	only for coding exons and intronic borders +/-14pb
  BBS10	100.00	0	only for coding exons and intronic borders +/-14pb
  TRIM32	100.00	0	only for coding exons and intronic borders +/-14pb
  BBS12	100.00	0	only for coding exons and intronic borders +/-14pb
  MKS1	100.00	0	only for coding exons and intronic borders +/-14pb
  CEP290	99.99	0	only for coding exons and intronic borders +/-14pb
  WDPCP	100.00	0	only for coding exons and intronic borders +/-14pb
  SDCCAG8	100.00	0	only for coding exons and intronic borders +/-14pb
  LZTFL1	100.00	0	only for coding exons and intronic borders +/-14pb
  BBIP1	100.00	0	only for coding exons and intronic borders +/-14pb
  IFT27	100.00	0	only for coding exons and intronic borders +/-14pb
  BDNF	100.00	0	only for coding exons and intronic borders +/-14pb
  CREBBP	99.99	0	only for coding exons and intronic borders +/-14pb
  EP300	99.99	0	only for coding exons and intronic borders +/-14pb
  GNAS	99.34	0	only for coding exons and intronic borders +/-14pb
  INPP5E	97.02	0	only for coding exons and intronic borders +/-14pb
  LEP	100.00	1	only for coding exons and intronic borders +/-14pb
  LEPR	99.99	1	only for coding exons and intronic borders +/-14pb
  MAGEL2	99.54	0	only for coding exons and intronic borders +/-14pb
  MC3R	100.00	1	only for coding exons and intronic borders +/-14pb
  MC4R	100.00	1	only for coding exons and intronic borders +/-14pb
  MYT1L	100.00	0	only for coding exons and intronic borders +/-14pb
  NTRK2	100.00	0	only for coding exons and intronic borders +/-14pb
  PCSK1	99.99	0	only for coding exons and intronic borders +/-14pb
  PHF6	99.98	0	only for coding exons and intronic borders +/-14pb
  POMC	99.97	1	only for coding exons and intronic borders +/-14pb
  RAB23	100.00	0	only for coding exons and intronic borders +/-14pb
  SETD2	100.00	0	only for coding exons and intronic borders +/-14pb
  SH2B1	100.00	1	only for coding exons and intronic borders +/-14pb
  SIM1	100.00	1	only for coding exons and intronic borders +/-14pb
  TBX3	98.58	0	only for coding exons and intronic borders +/-14pb
  TUB	100.00	0	only for coding exons and intronic borders +/-14pb
  DYRK1B	99.94	0	only for coding exons and intronic borders +/-14pb
  MRAP2	100.00	0	only for coding exons and intronic borders +/-14pb