Gene Panel Sequencing

Methodology
Available gene panels
Compatible platforms​
 

Methodology

Via Gene Panel sequencing, it is possible to reduce the genomic information to a selected set of genes. In diagnostic gene panels, the selected set of genes are known to be involved in a specific pathology.

The capturing-based Gene Panel procedure is very similar to the Whole Exome Sequencing setup and we would like to refer to this section for more information.

 

Multiplex PCR based technologies are an alternative to the capturing based technologies

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See capturing-based Gene Panel procedure in section Whole Exome Sequencing

List of currently available gene panels

 

The following tests are currently available through the BRIGHTcore, UZ Brussel and Hôpital Erasme laboratory services :

 

Acute Myeloid Leukemia (AML)

Size : 4 Mb (260 genes)

Kit used : IDT xGen® Acute Myeloid Leukemia Cancer Panel

Under validation

Cancer mutation hotspot panel

Size : 36 kb (48 genes)

Kit used : Illumina TruSeq Amplicon Cancer

Under validation

Cardiomyopathies (CM)

Size : 365 kb (102 genes) (version 2)

Kit used :  custom design

Validated

Comprehensive Cancer panel

Size : 4 Mb (578 genes)

Kit used : Roche SeqCap EZ Comprehensive Cancer

Under validation

Congenital heart disease (CHD)

Size : 71 kb (29 genes) (version 1)

Kit used : custom design

Validated

Extended Breast Cancer panel (BRCA)

Size : 25 genes

Kit used : Hereditary cancer solution (Sophia Genetics)

Extended Breast Cancer panel (BRCA)

Size : 25 genes (version 1)

Kit used : Multiplicom Hereditary Cancer MASTR Plus kit

Hereditary fevers

Size : 10 genes

Kit used : Roche SeqCap EZ custom design

HLA-A, -B, -C, -DQA1, -DQB1, -DRB1, -DPB1 typing for hematopoietic stem cell transplantation and kidney transplantation

Kit used : Holotype HLA 24/7 CE kit

Lymfoid malignancies: IgH, IgK and TCR (beta and gamma) rearrangements

Size : 4 genes

Kit used : Invivoscribe Lymphotrack IGH, IGK, TCRG and TCRB

Lysosomal Storage Disease (LSD)

Size : 210 kb (64 genes) (version 2)

Kit used : Roche SeqCap EZ custom design

Validated

Malformations of cortical development (MCD)

Size :  1Mb (216 genes) (version 5)

Kit used : Roche SeqCap EZ custom design

Validated

Mendeliome

Size : 12,4 Mb (4427 genes) (version 5)

Kit used : Roche SeqCap EZ custom design

Validated

Mendeliome - Ataxia

Size : 185 genes (version 1)

Kit used : Roche SeqCap EZ custom design

Validated

Mendeliome - Congenital malformations

Size :  760 genes (version 5)

Kit used : Roche SeqCap EZ custom design

Validated

Mendeliome - Early onset obesitas

Size : 8 genes (version 5)

Kit used : Roche SeqCap EZ custom design

Validated

Mendeliome - Epilepsy

Size : 780 genes (version 5)

Kit used : Roche SeqCap EZ custom design

Validated

Mendeliome - Hereditary spastic paraplegia

Size : 141 genes (version 1)

Kit used : Roche SeqCap EZ custom design

Validated

Mendeliome - Hypogonadotropic hypogonadism (HH)

Size : 32 genes (version 5)

Kit used : Roche SeqCap EZ custom design

Validated

Mendeliome - Metabolic disorders (MD)

Size : 214 genes (version 5)

Kit used : Roche SeqCap EZ custom design

Validated

Mendeliome - Motor neuron disease

Size : 6 genes (version 1)

Kit used : Roche SeqCap EZ custom design

Validated

Mendeliome - Muscular channelopathy

Size : 3 genes (version 1)

Kit used : Roche SeqCap EZ custom design

Validated

Mendeliome - Muscular dystrophy / myopathy

Size : 17 genes (version 1)

Kit used : Roche SeqCap EZ custom design

Validated

Mendeliome - Myasthenic congenital syndrome

Size : 19 genes (version 1)

Kit used : Roche SeqCap EZ custom design

Validated

Mendeliome - Neurodevelopmental disorders

Size : 1600 genes (version 5)

Kit used : Roche SeqCap EZ custom design

Validated

Mendeliome - Neuromuscular disorders (NM)

Size : 166 genes (version 5)

Kit used : Roche SeqCap EZ custom design

Validated

Mendeliome - Neuropathy

Size : 12 genes (version 1)

Kit used : Roche SeqCap EZ custom design

Validated

Mendeliome - Primary ovarian insufficiency (POI)

Size : 32 genes (version 5)

Kit used : Roche SeqCap EZ custom design

Validated

Mendeliome - Skeletal dysplasia (SKD)

Size : 376 genes (version 5)

Kit used : Roche SeqCap EZ custom design

Validated

Mendeliome - Thyroid disorders

Size : 16 genes (version 5)

Kit used : Roche SeqCap EZ custom design

Validated

Microcephaly

Size : 14 genes

Kit used : Roche SeqCap EZ custom design

Mitochondrial nuclear panel

Size : 686 kb (333 genes) (version 4)

Kit used : Roche SeqCap EZ custom design

Validated

Ovarian cancer (somatic)

Size : 2 genes

Kit used : Multiplicom BRCA MASTR Plus Dx

Primary cardiac arrhythmias (PCA)

Size : 85,2 kb (28 genes) (version 1)

Kit used : custom design

Pulmonary Arterial Hypertension (HTAP)

Size : 8 genes

Kit used : Roche SeqCap EZ custom design

Solid and Haematological Tumours (STHT)

Size : 556 kb (165 genes)

Kit used :  custom design

Validated

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Compatible platforms

 

Dependent on the panel size and the requested average coverage, the most suitable platform will be selected.

 

Kits

Our routine Gene Panel procedure uses the following kits :

  • KAPA Hyper prep

  • Roche SeqCap EZ custom panels

  • Integrated DNA Technologies (IDT) xGen® Lockdown® Probes

  • Multiplicom MASTR

  • Illumina TruSeq Amplicon

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Photography / Bart Moens / http://www.fotobart.be

Content & illustrations / Ben Caljon