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GENE PANELS

METHODOLOGY

 

In essence there are 2 mainstream methods to enrich for specific genomic targets : (1) the hybrid capture method and (2) the PCR based approach.

The hybrid capture based method is more leniant towards 'content updates' (addition or removal of probes/targets), but is more laborious.

The PCR base approach generally has a better limit of detection and is less laborious, however it requires a longer or more complex optimization phase in case multiple targets need to be enriched for.

1. Hybrid capture method
Step 1
Step 1

Fragmentation of genomic DNA

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Step 2
Step 2

End repair of fragmented DNA + phosphorylation and adenylation

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Step 7
Step 7

PCR amplification of the probe-selected fragments

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Step 1
Step 1

Fragmentation of genomic DNA

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1/7
2. PCR based method
Step 1
Step 1

Amplification of target of interest with locus specific tagged primers

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Step 2
Step 2

Nested PCR on the tagged PCR amplicons (step 1) in order to incorporate a sample specific barcode (grey) and flowcell recognition sites (red and green)

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Step 1
Step 1

Amplification of target of interest with locus specific tagged primers

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1/2

COMPACT PANEL LIST

 

The panels listed below are the active panels (currently available). If you wish to consult the discontinued panels, please click the corresponding button.

Panel Name
Version
Size
EXOME
2
34 Mb - 19433 genes
FAMILIAL CANCER PANEL (FAMGP) THROUGH STHT
3
10 genes
GENE FUSION PANEL - TSO500
HT
55 genes
HEREDITARY BREAST AND OVARIAN CANCER (HBOC) THROUGH STHT
3
12 genes
HLA-A, -B, -C, -DQA1, -DQB1, -DRB1, -DPB1 TYPING FOR HEMATOPOIETIC STEM CELL TRANSPLANTATION AND KIDNEY TRANSPLANTATION
1
7 genes
LYMFOID MALIGNANCIES: IGH, IGK AND TCR (BETA AND GAMMA) REARRANGEMENTS
1
4 genes
MENDELIOME
11
14 Mb - 4867 genes
MENDELIOME - ATAXIA
11
348 genes
MENDELIOME - CARDIOMYOPATHIES (CM)
11
211 genes
MENDELIOME - CONGENITAL HEART DISEASE (CHD)
11
29 genes
MENDELIOME - CONGENITAL MALFORMATIONS
11
760 genes
MENDELIOME - EARLY ONSET OBESITAS
11
8 genes
MENDELIOME - EPILEPSY
11
782 genes
MENDELIOME - EXTENDED CARRIER SCREENING (ECS)
11
1234 genes
MENDELIOME - HEREDITARY SPASTIC PARAPLEGIA
11
160 genes
MENDELIOME - HYPOGONADOTROPIC HYPOGONADISM (HH)
11
33 genes
MENDELIOME - LYSOSOMAL STORAGE DISEASE (LSD)
11
64 genes
MENDELIOME - MALFORMATIONS OF CORTICAL DEVELOPMENT (MCD)
11
235 genes
MENDELIOME - METABOLIC DISORDERS (MD)
11
213 genes
MENDELIOME - MITOCHONDRIAL NUCLEAR PANEL
11
343 genes
MENDELIOME - MOTOR NEURON DISEASE
11
56 genes
MENDELIOME - MUSCULAR CHANNELOPATHY
11
13 genes
MENDELIOME - MUSCULAR DYSTROPHY / MYOPATHY
11
101 genes
MENDELIOME - MYASTHENIC CONGENITAL SYNDROME
11
29 genes
MENDELIOME - NEURODEVELOPMENTAL DISORDERS
11
1161 genes
MENDELIOME - NEUROMUSCULAR DISORDERS (NM)
11
166 genes
MENDELIOME - NEUROPATHY
11
111 genes
MENDELIOME - PRIMARY CARDIAC ARRHYTHMIAS (PCA)
11
115 genes
MENDELIOME - PRIMARY OVARIAN INSUFFICIENCY (POI)
11
32 genes
MENDELIOME - SKELETAL DYSPLASIA (SKD)
11
394 genes
MENDELIOME - THYROID DISORDERS
11
38 genes
SOLID TUMORS AND HAEMATOLOGICAL TUMORS (STHT)
3
1,46 Mb - 380 genes
STHT - BRAIN PANEL
3.1
178 genes
STHT - CLINICAL STUDIES (IJB)
3.1
36 genes
STHT - CONSTITUTIONAL PANEL
3.1
52 genes
STHT - GYNAECO PANEL
3.1
65 genes
STHT - HRD
3.1
44 genes
STHT - LUNG
3.1
54 genes
STHT - LYMFOID
3.1
139 genes
STHT - MYELOID
3.1
63 genes
STHT - OTHER SOLID TUMORS
3.1
109 genes
STHT - PGx
3.1
3 genes
STHT - THYROID
3.1
48 genes

EXTENDED PANEL LIST

 

The panels listed below are the active panels (currently available). The discontinued panels can be consulted with  the corresponding button.

EXOME

Version :
2
Active.png

34 Mb - 19433 genes

FAMILIAL CANCER PANEL (FAMGP) THROUGH STHT

Version :
3
Active.png

10 genes

GENE FUSION PANEL - TSO500

Version :
HT
Active.png

55 genes

HEREDITARY BREAST AND OVARIAN CANCER (HBOC) THROUGH STHT

Version :
3
Active.png

12 genes

HLA-A, -B, -C, -DQA1, -DQB1, -DRB1, -DPB1 TYPING FOR HEMATOPOIETIC STEM CELL TRANSPLANTATION AND KIDNEY TRANSPLANTATION

Version :
1
Active.png

7 genes

LYMFOID MALIGNANCIES: IGH, IGK AND TCR (BETA AND GAMMA) REARRANGEMENTS

Version :
1
Active.png

4 genes

MENDELIOME

Version :
11
Active.png

14 Mb - 4867 genes

MENDELIOME - ATAXIA

Version :
11
Active.png

348 genes

MENDELIOME - CARDIOMYOPATHIES (CM)

Version :
11
Active.png

211 genes

MENDELIOME - CONGENITAL HEART DISEASE (CHD)

Version :
11
Active.png

29 genes

MENDELIOME - CONGENITAL MALFORMATIONS

Version :
11
Active.png

760 genes

MENDELIOME - EARLY ONSET OBESITAS

Version :
11
Active.png

8 genes

MENDELIOME - EPILEPSY

Version :
11
Active.png

782 genes

MENDELIOME - EXTENDED CARRIER SCREENING (ECS)

Version :
11
Active.png

1234 genes

MENDELIOME - HEREDITARY SPASTIC PARAPLEGIA

Version :
11
Active.png

160 genes

MENDELIOME - HYPOGONADOTROPIC HYPOGONADISM (HH)

Version :
11
Active.png

33 genes

MENDELIOME - LYSOSOMAL STORAGE DISEASE (LSD)

Version :
11
Active.png

64 genes

MENDELIOME - MALFORMATIONS OF CORTICAL DEVELOPMENT (MCD)

Version :
11
Active.png

235 genes

MENDELIOME - METABOLIC DISORDERS (MD)

Version :
11
Active.png

213 genes

MENDELIOME - MITOCHONDRIAL NUCLEAR PANEL

Version :
11
Active.png

343 genes

MENDELIOME - MOTOR NEURON DISEASE

Version :
11
Active.png

56 genes

MENDELIOME - MUSCULAR CHANNELOPATHY

Version :
11
Active.png

13 genes

MENDELIOME - MUSCULAR DYSTROPHY / MYOPATHY

Version :
11
Active.png

101 genes

MENDELIOME - MYASTHENIC CONGENITAL SYNDROME

Version :
11
Active.png

29 genes

MENDELIOME - NEURODEVELOPMENTAL DISORDERS

Version :
11
Active.png

1161 genes

MENDELIOME - NEUROMUSCULAR DISORDERS (NM)

Version :
11
Active.png

166 genes

MENDELIOME - NEUROPATHY

Version :
11
Active.png

111 genes

MENDELIOME - PRIMARY CARDIAC ARRHYTHMIAS (PCA)

Version :
11
Active.png

115 genes

MENDELIOME - PRIMARY OVARIAN INSUFFICIENCY (POI)

Version :
11
Active.png

32 genes

MENDELIOME - SKELETAL DYSPLASIA (SKD)

Version :
11
Active.png

394 genes