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Oncology

  • Oncology

It is estimated that up to 15% of all tumors are hereditary, i.e. they are the result of germline mutations in specific genes that increase the susceptibility to cancer. The genetic diagnosis of hereditary cancer is essential for the selection of the most appropriate treatment and clinical management of the patient and allows the establishment of the necessary tools for early detection and prevention in family members who are carriers of the same condition.

All genes included in each of our targeted exomes are clinically highly relevant and have been selected from information contained in reference databases such as OMIM, HGMD, ClinVar and HPO, and in the most recent scientific literature.

Cardiology
Oncology
Neurology
Endocrinology
Hematology
Pediatrics
Metabolopathies
ENT
Ophthalmology

DESCRIPTION

Cancer is a disorder in cell proliferation due to genetic alterations. About 15% of all tumors are hereditary, that is, they are the result of germline mutations in specific genes that increase the susceptibility to cancer, which are transmitted among family members according to different inheritance patterns. The genetic diagnosis of hereditary cancer is essential for the selection of the most appropriate treatment and clinical management of the patient and allows the establishment of the necessary tools for early detection and prevention in family members who are carriers of the same condition.

AIP, AKT1, ACD, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDH23, CDK4, CDKN1A, CDKN1B, CDKN1C, CDKN2A,CDKN2B, CDKN2C, CEBPA, CHEK2, CTNNA1, CTR9, CYLD, DDB2, DICER1, DIS3L2,ELAC2, ENG, EPCAM, EPHB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6L2, ESR2, FAAP100, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, FOXE1, GALNT12, GATA2, GPC3,GPC4, GREM1, HAPB2, HNF1B, HOXB13, IL1B, IL1RN, KIF1B, KIT, KRT14, KRT5, MAD2L2, MAP3K6, MAX, MC1R, MEN1, MET, MGMT, MINPP1, MITF, MLH1, MLH3, MN1, MRE11, MSH2, MSH3, MSH6, MSMB, MSR1,MUTYH, NBN, NF1, NF2, NKX2-1, NTHL1, NTRK1, PALB2, PALLD, PDGFB, PDGFRA, PIK3CA, PMS1, PMS2, POLD1, POLE, POLH, POT1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RABL3, RAD50, RAD51, RAD51C, RAD51D, RB1, REST, RECQL4, RET, RFWD3, RHBDF2, RNASEL, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPRED1, SRD5A2, SRGAP1, STK11, SUFU, TERF2IP, TERT, TGFBR2, TGM6, TMEM127, TP53, TRIM37, TSC1, TSC2, TYR, UBE2T, USF3, VHL, WT1, XPA, XPC, XRCC2, XRCC3.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

Within gynaecological tumours, breast and ovarian cancer is the most prevalent type of cancer in women. 5-10% of cases have a hereditary component due to germline mutations in the BRCA1 and BRCA2 genes. We offer the targeted study of these two genes and the analysis of 28 genes of high and moderate penetrance that increase the predisposition to develop hereditary breast and ovarian cancer.

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MLH3, MRE11, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, RECQL, STK11, TP53, XRCC2.
BRCA1, BRCA2.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

It is one of the most prevalent cancers in the population and it is estimated that 20-30% of colorectal cancers are familial. They can be divided into polyposis and non-polyposis syndromes. We study various types of colorectal cancer including Lynch Syndrome and Familial Adenomatous Polyposis.

APC, AXIN2, BMPR1A, ENG, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SMAD4, STK11, TP53.
EPCAM, MLH1, MSH2, MSH6, PMS2.
APC, MUTYH.
APC, AXIN2, MSH3, MUTYH, NTHL1, POLD1, POLE.
POLD1, POLE.
RNF43.
BMPR1A, ENG, PTEN, SMAD4.
PTEN.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

They comprise malignant tumours arising in any of the layers of the gastrointestinal tract. Diffuse gastric cancer accounts for 1-3% of all gastric cancers and alterations in the CDH1 gene have been identified in 50% of families. We study this type of neoplasm as well as other tumours of the gastrointestinal tract.

APC, CDH1, KIT, PDGFRA, SDHB, SDHC, SDHD.
APC, CDH1, CTNNA1, MAP3K6.
KIT, PDGFRA.
BRCA1, BRCA2, PALB2, PALLD, RABL3.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

Renal cancer accounts for approximately 3% of all tumours in the body and although most are sporadic, there are hereditary syndromes associated with a predisposition to develop this disease. Prostate cancer is a genetically heterogeneous disease with hereditary factors in 40-50% of cases. We have analysed the hereditary renal and prostate cancer susceptibility genes using different genetic tests. 

Kidney Cancer

FH, FLCN, MET, VHL.
FH.
MET.

Prostate Cancer

ATM, BRCA1, BRCA2, CDH1, CHEK2, ELAC2, EPHB2, HNF1B, HOXB13, MLH1, MSH2, MSH6, MSMB, MSR1, NBN, PALB2, PMS2, RAD51D, RNASEL, SRD5A2.

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

Neuroendocrine tumours form in cells that release hormones in response to a signal from the nervous system. We study predisposition genes for the development of multiple endocrine neoplasms, medullary and non-medullary thyroid cancer and hereditary paraganglionic pheochromocytoma, among others.

ESR2, NTRK1, RET.
FOXE1, HAPB2, MINPP1, NKX2-1, SRGAP1.
CDKN1A, CDKN1B, CDKN2B, CDKN2C, MEN1, RET.
KIF1B, MAX, NF1, RET,SDHD, SDHC, SDHB, SDHA, SDHAF2, TMEM127, VHL.
AIP, HRC23.

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

Melanoma is the most aggressive subtype of skin cancer. We offer the study of genes predisposing to the development of melanoma including the CDKN2A gene, which is involved in 20-40 % of familial cases. In the general panel we study 25 genes predisposing to different types of skin cancer.

ACD, BAP1, CDKN2A, CDK4, CYLD, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, KRT14, KRT5, MC1R, MGMT, MITF, POLH, POT1, PTCH1, PTCH2, SUFU, TERF2IP, TERT, XPA, XPC.
ACD, BAP1, CDKN2A, CDK4, MC1R, MGMT, MITF, POT1, TERF2IP, TERT.

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

It is a rare ocular tumour disease but represents the most common intraocular neoplasm in children. Forty percent of cases are hereditary due to germline mutations in the RB1 gene.

RB1

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

Cancer susceptibility syndromes refer to inherited disorders in which there is a higher than normal risk of developing certain types of cancer and a specific distribution of cancer is observed in the family. Most are extraordinarily rare in the population, but together they may account for approximately 5-10% of all cancer cases. We offer the study of various cancer susceptibility syndromes including Li-Fraumeni syndrome, Cowden syndrome and Lynch syndrome, among others.

BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAAP100, MAD2L2, PALB2, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2.
AKT1, PI3K3CA, PTEN, SDHB, SDHC, SDHD, SEC23B, USF3.
TP53.
PTCH1, PTCH2, SUFU.
NF1, NF2, SPRED.
STK11.
VHL.
FLCN.
BRAF, EPCAM, MLH1, MLH3, MSH2, MSH6, PMS1, PMS2, TGFBR2.
SDHB, SDHC, SDHD.
PRKAR1A.
BLM, BRCA2, BUB1B, CDC73, CTR9, DICER1, DIS3L2, GPC3, GPC4, PALB2, PIK3CA, REST, TP53, TRIM37, WT1.
CYLD, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, KRT14, KRT5, POLH, XPA, XPC.
TSC1, TSC2.

CHARACTERISTICS

Delivery time: 35-45 days 

Other services

DESCRIPTION

We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases. 

DESCRIPTION

We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.

DESCRIPTION

We use the MLPA technique (Multiplex Ligation-dependent Probe Amplification) for the identification of deletions/duplications or methylation alterations in a methylation alterations in a specific gene or region.

Access Genome Lab
Study request
Accepted samples
  • EDTA blood (1x 5 ml)
  • Saliva (specific Isohelix kit)
  • Buccal exudate (2x sterile isopes)
  • Isolated DNA (>30 ng/μl in >100 μl)

Remember to label each sample with the patient's first and last name or with the identifier used on the request form.

Search for studies
  • Oncology
Cardiology
Oncology
Neurology
Endocrinology
Hematology
Pediatrics
Metabolopathies
ENT
Ophthalmology

DESCRIPTION

Cancer is a disorder in cell proliferation due to genetic alterations. About 15% of all tumors are hereditary, that is, they are the result of germline mutations in specific genes that increase the susceptibility to cancer, which are transmitted among family members according to different inheritance patterns. The genetic diagnosis of hereditary cancer is essential for the selection of the most appropriate treatment and clinical management of the patient and allows the establishment of the necessary tools for early detection and prevention in family members who are carriers of the same condition.

AIP, AKT1, ACD, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDH23, CDK4, CDKN1A, CDKN1B, CDKN1C, CDKN2A,CDKN2B, CDKN2C, CEBPA, CHEK2, CTNNA1, CTR9, CYLD, DDB2, DICER1, DIS3L2,ELAC2, ENG, EPCAM, EPHB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6L2, ESR2, FAAP100, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, FOXE1, GALNT12, GATA2, GPC3,GPC4, GREM1, HAPB2, HNF1B, HOXB13, IL1B, IL1RN, KIF1B, KIT, KRT14, KRT5, MAD2L2, MAP3K6, MAX, MC1R, MEN1, MET, MGMT, MINPP1, MITF, MLH1, MLH3, MN1, MRE11, MSH2, MSH3, MSH6, MSMB, MSR1,MUTYH, NBN, NF1, NF2, NKX2-1, NTHL1, NTRK1, PALB2, PALLD, PDGFB, PDGFRA, PIK3CA, PMS1, PMS2, POLD1, POLE, POLH, POT1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RABL3, RAD50, RAD51, RAD51C, RAD51D, RB1, REST, RECQL4, RET, RFWD3, RHBDF2, RNASEL, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPRED1, SRD5A2, SRGAP1, STK11, SUFU, TERF2IP, TERT, TGFBR2, TGM6, TMEM127, TP53, TRIM37, TSC1, TSC2, TYR, UBE2T, USF3, VHL, WT1, XPA, XPC, XRCC2, XRCC3.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

Within gynaecological tumours, breast and ovarian cancer is the most prevalent type of cancer in women. 5-10% of cases have a hereditary component due to germline mutations in the BRCA1 and BRCA2 genes. We offer the targeted study of these two genes and the analysis of 28 genes of high and moderate penetrance that increase the predisposition to develop hereditary breast and ovarian cancer.

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MLH3, MRE11, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, RECQL, STK11, TP53, XRCC2.
BRCA1, BRCA2.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

It is one of the most prevalent cancers in the population and it is estimated that 20-30% of colorectal cancers are familial. They can be divided into polyposis and non-polyposis syndromes. We study various types of colorectal cancer including Lynch Syndrome and Familial Adenomatous Polyposis.

APC, AXIN2, BMPR1A, ENG, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SMAD4, STK11, TP53.
EPCAM, MLH1, MSH2, MSH6, PMS2.
APC, MUTYH.
APC, AXIN2, MSH3, MUTYH, NTHL1, POLD1, POLE.
POLD1, POLE.
RNF43.
BMPR1A, ENG, PTEN, SMAD4.
PTEN.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

They comprise malignant tumours arising in any of the layers of the gastrointestinal tract. Diffuse gastric cancer accounts for 1-3% of all gastric cancers and alterations in the CDH1 gene have been identified in 50% of families. We study this type of neoplasm as well as other tumours of the gastrointestinal tract.

APC, CDH1, KIT, PDGFRA, SDHB, SDHC, SDHD.
APC, CDH1, CTNNA1, MAP3K6.
KIT, PDGFRA.
BRCA1, BRCA2, PALB2, PALLD, RABL3.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

Renal cancer accounts for approximately 3% of all tumours in the body and although most are sporadic, there are hereditary syndromes associated with a predisposition to develop this disease. Prostate cancer is a genetically heterogeneous disease with hereditary factors in 40-50% of cases. We have analysed the hereditary renal and prostate cancer susceptibility genes using different genetic tests. 

Kidney Cancer

FH, FLCN, MET, VHL.
FH.
MET.

Prostate Cancer

ATM, BRCA1, BRCA2, CDH1, CHEK2, ELAC2, EPHB2, HNF1B, HOXB13, MLH1, MSH2, MSH6, MSMB, MSR1, NBN, PALB2, PMS2, RAD51D, RNASEL, SRD5A2.

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

Neuroendocrine tumours form in cells that release hormones in response to a signal from the nervous system. We study predisposition genes for the development of multiple endocrine neoplasms, medullary and non-medullary thyroid cancer and hereditary paraganglionic pheochromocytoma, among others.

ESR2, NTRK1, RET.
FOXE1, HAPB2, MINPP1, NKX2-1, SRGAP1.
CDKN1A, CDKN1B, CDKN2B, CDKN2C, MEN1, RET.
KIF1B, MAX, NF1, RET,SDHD, SDHC, SDHB, SDHA, SDHAF2, TMEM127, VHL.
AIP, HRC23.

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

Melanoma is the most aggressive subtype of skin cancer. We offer the study of genes predisposing to the development of melanoma including the CDKN2A gene, which is involved in 20-40 % of familial cases. In the general panel we study 25 genes predisposing to different types of skin cancer.

ACD, BAP1, CDKN2A, CDK4, CYLD, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, KRT14, KRT5, MC1R, MGMT, MITF, POLH, POT1, PTCH1, PTCH2, SUFU, TERF2IP, TERT, XPA, XPC.
ACD, BAP1, CDKN2A, CDK4, MC1R, MGMT, MITF, POT1, TERF2IP, TERT.

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

It is a rare ocular tumour disease but represents the most common intraocular neoplasm in children. Forty percent of cases are hereditary due to germline mutations in the RB1 gene.

RB1

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

Cancer susceptibility syndromes refer to inherited disorders in which there is a higher than normal risk of developing certain types of cancer and a specific distribution of cancer is observed in the family. Most are extraordinarily rare in the population, but together they may account for approximately 5-10% of all cancer cases. We offer the study of various cancer susceptibility syndromes including Li-Fraumeni syndrome, Cowden syndrome and Lynch syndrome, among others.

BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAAP100, MAD2L2, PALB2, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2.
AKT1, PI3K3CA, PTEN, SDHB, SDHC, SDHD, SEC23B, USF3.
TP53.
PTCH1, PTCH2, SUFU.
NF1, NF2, SPRED.
STK11.
VHL.
FLCN.
BRAF, EPCAM, MLH1, MLH3, MSH2, MSH6, PMS1, PMS2, TGFBR2.
SDHB, SDHC, SDHD.
PRKAR1A.
BLM, BRCA2, BUB1B, CDC73, CTR9, DICER1, DIS3L2, GPC3, GPC4, PALB2, PIK3CA, REST, TP53, TRIM37, WT1.
CYLD, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, KRT14, KRT5, POLH, XPA, XPC.
TSC1, TSC2.

CHARACTERISTICS

Delivery time: 35-45 days 

Other services

DESCRIPTION

We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases. 

DESCRIPTION

We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.

DESCRIPTION

We use the MLPA technique (Multiplex Ligation-dependent Probe Amplification) for the identification of deletions/duplications or methylation alterations in a methylation alterations in a specific gene or region.

  • Oncology

DESCRIPTION

Cancer is a disorder in cell proliferation due to genetic alterations. About 15% of all tumors are hereditary, that is, they are the result of germline mutations in specific genes that increase the susceptibility to cancer, which are transmitted among family members according to different inheritance patterns. The genetic diagnosis of hereditary cancer is essential for the selection of the most appropriate treatment and clinical management of the patient and allows the establishment of the necessary tools for early detection and prevention in family members who are carriers of the same condition.

AIP, AKT1, ACD, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDH23, CDK4, CDKN1A, CDKN1B, CDKN1C, CDKN2A,CDKN2B, CDKN2C, CEBPA, CHEK2, CTNNA1, CTR9, CYLD, DDB2, DICER1, DIS3L2,ELAC2, ENG, EPCAM, EPHB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6L2, ESR2, FAAP100, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, FOXE1, GALNT12, GATA2, GPC3,GPC4, GREM1, HAPB2, HNF1B, HOXB13, IL1B, IL1RN, KIF1B, KIT, KRT14, KRT5, MAD2L2, MAP3K6, MAX, MC1R, MEN1, MET, MGMT, MINPP1, MITF, MLH1, MLH3, MN1, MRE11, MSH2, MSH3, MSH6, MSMB, MSR1,MUTYH, NBN, NF1, NF2, NKX2-1, NTHL1, NTRK1, PALB2, PALLD, PDGFB, PDGFRA, PIK3CA, PMS1, PMS2, POLD1, POLE, POLH, POT1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RABL3, RAD50, RAD51, RAD51C, RAD51D, RB1, REST, RECQL4, RET, RFWD3, RHBDF2, RNASEL, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPRED1, SRD5A2, SRGAP1, STK11, SUFU, TERF2IP, TERT, TGFBR2, TGM6, TMEM127, TP53, TRIM37, TSC1, TSC2, TYR, UBE2T, USF3, VHL, WT1, XPA, XPC, XRCC2, XRCC3.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

Within gynaecological tumours, breast and ovarian cancer is the most prevalent type of cancer in women. 5-10% of cases have a hereditary component due to germline mutations in the BRCA1 and BRCA2 genes. We offer the targeted study of these two genes and the analysis of 28 genes of high and moderate penetrance that increase the predisposition to develop hereditary breast and ovarian cancer.

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MLH3, MRE11, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, RECQL, STK11, TP53, XRCC2.
BRCA1, BRCA2.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

It is one of the most prevalent cancers in the population and it is estimated that 20-30% of colorectal cancers are familial. They can be divided into polyposis and non-polyposis syndromes. We study various types of colorectal cancer including Lynch Syndrome and Familial Adenomatous Polyposis.

APC, AXIN2, BMPR1A, ENG, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SMAD4, STK11, TP53.
EPCAM, MLH1, MSH2, MSH6, PMS2.
APC, MUTYH.
APC, AXIN2, MSH3, MUTYH, NTHL1, POLD1, POLE.
POLD1, POLE.
RNF43.
BMPR1A, ENG, PTEN, SMAD4.
PTEN.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

They comprise malignant tumours arising in any of the layers of the gastrointestinal tract. Diffuse gastric cancer accounts for 1-3% of all gastric cancers and alterations in the CDH1 gene have been identified in 50% of families. We study this type of neoplasm as well as other tumours of the gastrointestinal tract.

APC, CDH1, KIT, PDGFRA, SDHB, SDHC, SDHD.
APC, CDH1, CTNNA1, MAP3K6.
KIT, PDGFRA.
BRCA1, BRCA2, PALB2, PALLD, RABL3.

CHARACTERISTICS

  • Delivery time: 35-45 days 

DESCRIPTION

Renal cancer accounts for approximately 3% of all tumours in the body and although most are sporadic, there are hereditary syndromes associated with a predisposition to develop this disease. Prostate cancer is a genetically heterogeneous disease with hereditary factors in 40-50% of cases. We have analysed the hereditary renal and prostate cancer susceptibility genes using different genetic tests. 

Kidney Cancer

FH, FLCN, MET, VHL.
FH.
MET.

Prostate Cancer

ATM, BRCA1, BRCA2, CDH1, CHEK2, ELAC2, EPHB2, HNF1B, HOXB13, MLH1, MSH2, MSH6, MSMB, MSR1, NBN, PALB2, PMS2, RAD51D, RNASEL, SRD5A2.

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

Neuroendocrine tumours form in cells that release hormones in response to a signal from the nervous system. We study predisposition genes for the development of multiple endocrine neoplasms, medullary and non-medullary thyroid cancer and hereditary paraganglionic pheochromocytoma, among others.

ESR2, NTRK1, RET.
FOXE1, HAPB2, MINPP1, NKX2-1, SRGAP1.
CDKN1A, CDKN1B, CDKN2B, CDKN2C, MEN1, RET.
KIF1B, MAX, NF1, RET,SDHD, SDHC, SDHB, SDHA, SDHAF2, TMEM127, VHL.
AIP, HRC23.

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

Melanoma is the most aggressive subtype of skin cancer. We offer the study of genes predisposing to the development of melanoma including the CDKN2A gene, which is involved in 20-40 % of familial cases. In the general panel we study 25 genes predisposing to different types of skin cancer.

ACD, BAP1, CDKN2A, CDK4, CYLD, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, KRT14, KRT5, MC1R, MGMT, MITF, POLH, POT1, PTCH1, PTCH2, SUFU, TERF2IP, TERT, XPA, XPC.
ACD, BAP1, CDKN2A, CDK4, MC1R, MGMT, MITF, POT1, TERF2IP, TERT.

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

It is a rare ocular tumour disease but represents the most common intraocular neoplasm in children. Forty percent of cases are hereditary due to germline mutations in the RB1 gene.

RB1

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

Cancer susceptibility syndromes refer to inherited disorders in which there is a higher than normal risk of developing certain types of cancer and a specific distribution of cancer is observed in the family. Most are extraordinarily rare in the population, but together they may account for approximately 5-10% of all cancer cases. We offer the study of various cancer susceptibility syndromes including Li-Fraumeni syndrome, Cowden syndrome and Lynch syndrome, among others.

BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAAP100, MAD2L2, PALB2, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2.
AKT1, PI3K3CA, PTEN, SDHB, SDHC, SDHD, SEC23B, USF3.
TP53.
PTCH1, PTCH2, SUFU.
NF1, NF2, SPRED.
STK11.
VHL.
FLCN.
BRAF, EPCAM, MLH1, MLH3, MSH2, MSH6, PMS1, PMS2, TGFBR2.
SDHB, SDHC, SDHD.
PRKAR1A.
BLM, BRCA2, BUB1B, CDC73, CTR9, DICER1, DIS3L2, GPC3, GPC4, PALB2, PIK3CA, REST, TP53, TRIM37, WT1.
CYLD, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, KRT14, KRT5, POLH, XPA, XPC.
TSC1, TSC2.

CHARACTERISTICS

Delivery time: 35-45 days 

Other services

DESCRIPTION

We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases. 

DESCRIPTION

We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.

DESCRIPTION

We use the MLPA technique (Multiplex Ligation-dependent Probe Amplification) for the identification of deletions/duplications or methylation alterations in a methylation alterations in a specific gene or region.

© 2023 Dreamgenics, S.L. All Rights Reserved.

© 2022 Dreamgenics, S.L. All Rights Reserved.

© 2022 Dreamgenics, S.L. All Rights Reserved.

Mobile private area

Genome Lab

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