List of diseases covered by Fanconi Anemia NGS panel

Published 08/08/2018

List of diseases covered by
Fanconi Anemia NGS panel

Gene Condition
BRCA2 Fanconi anemia, complementation group D1; Wilms tumor;
Breast cancer, male, susceptibility to;
Breast-ovarian cancer, familial, 2; Glioblastoma 3;
Medulloblastoma; Pancreatic cancer 2; Prostate cancer
BRIP1 Breast cancer, early-onset; Fanconi anemia, complementation group J
ERCC4 Xeroderma pigmentosum, group F;
Fanconi anemia, complementation group Q;
XFE progeroid syndrome
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
PALB2 Breast cancer, susceptibility to;
Pancreatic cancer, susceptibility to, 3;
Fanconi anemia, complementation group N
RAD51C Breast-ovarian cancer, familial, susceptibility to, 3;
Fanconi anemia, complementation group O
SLX4 Fanconi anemia, complementation group P
XRCC2 Fanconi anemia, complementation group U

List of diseases covered by Fanconi Anemia NGS panel

Published 12/07/2018

List of diseases covered by
Fanconi Anemia NGS panel

Gene Condition
BRCA2 Fanconi anemia, complementation group D1; Wilms tumor;
Breast cancer, male, susceptibility to;
Breast-ovarian cancer, familial, 2; Glioblastoma 3;
Medulloblastoma; Pancreatic cancer 2; Prostate cancer
BRIP1 Breast cancer, early-onset; Fanconi anemia, complementation group J
ERCC4 Xeroderma pigmentosum, group F;
Fanconi anemia, complementation group Q;
XFE progeroid syndrome
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
PALB2 Breast cancer, susceptibility to;
Pancreatic cancer, susceptibility to, 3;
Fanconi anemia, complementation group N
RAD51C Breast-ovarian cancer, familial, susceptibility to, 3;
Fanconi anemia, complementation group O
SLX4 Fanconi anemia, complementation group P
XRCC2 Fanconi anemia, complementation group U

Fanconi Anemia

Published 23/03/2017

Fanconi Anemia
NGS panel

Genes: BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2 (excluding exons 15, 16), FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4, XRCC2

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: FANCA, FANCB, FANCD2, PALB2
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2,5 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Fanconi Anemia

Published 16/02/2017

Fanconi Anemia
NGS panel

Genes
(full coding
region):		 BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2 (excluding exons 15, 16), FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4, XRCC2

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Del/dup analysis

Genes: FANCA, FANCB, FANCD2, PALB2
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2,5 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form