Personalized studies in the different areas of pathology
FIND THE STUDIO
Our Cardiology area offers multiple molecular studies for inherited diseases and congenital syndromes, including cardiomyopathies or Brugada Syndrome among many others diseases.
- Dilated Cardiomyopathy (DCM): LMNA, MYH7
- Brugada syndrome: SCN5A
- Marfan syndrome: FBN1
Some of the most prevalent pathologies such as hereditary melanoma or congenital ichthyosis are addressed in the Dermatology area, not forgetting other less frequent syndromes.
- Neurofibromatosis: NF1
- Gorlin syndrome: PTCH1
- Hereditary melanoma: CDKN2A, CDKN2B, CDK4, MC1R
- Congenital ichthyosis: TGM1, ALOX12B, ALOXE3, ABCA12, STS, NIPAL4, CYP4F22
Inside our digestive area, we conduct studies related to different colorectal cancer, as well as other inherited syndromes such as hereditary pancreatitis
- Hereditary nonpolyposis colorectal cancer (HNPCC) (Lynch syndome): MLH1, MSH2,
MSH6, PMS2, PD-L1, BRAF
- Hereditary polyposis colorectal cancer (Familial Adenomatous Polyposis (FAP): APC,
- Hereditary pancreatitis: PRSS1, SPINK1
A wide range of genetic studies for the detection of endocrinological diseases is available within our catalogue
- Feochromocytoma/Paraganglioma: SDHD, SDHC, SDHB, SDHA, SDHAF2, VHL
- Diabetes: AVPR2, GCK, HNF1A, HNF4, HNF1B
- Hypothyroidism: THRB, TSHR
- Hypercholesterolemia: LDLR, APOB, LDLRAP1
In the Ginecology area we offer numerous genetic studies both for the characterization of cancers such as breast or ovarian and for other gynecological pathologies (gonales dysgenesias)
- Hereditary breast and ovarian cancer: BRCA1, BRCA2, PALB2
- Gonadal dysgenesis: SRY
- Androgen insensitivity syndrome: AR
Within the hematological area, we address genetic diagnoses of alterations associated with blood and its components.
- Fanconi anaemia: BRCA2, BRIP1, ERCC4, MAD2L2, FANC, PALB2, RAD51, RAD51C, SLX4, UBE2T, XRCC2
- Beta thalassemia: HBB
- Hemophilia and von Willebrand Disease: F8,F9,VWF
- Hemochromatosis: HFE, HJV
In the nephrology area we offer a diverse catalog of molecular analyses for diseases associated with the genitourinary system, as well as profiles for renal transplantation.
- Nephroblastoma- Wilms’ tumor: CTNNB1, WT1
- Polycystic kidney disease (AR/AD): PKHD1, GANAB, PKD1
- Kidney transplant profile
A wide range of genetic studies for the detection of neurological disorders such as Alzheimer's or Parkinson's disease.
- Alzheimer: APOE, APP, PSEN1, PSEN2
- Epilepsy: ALDH7A1, CRH, CHRNA2, CHRNA4, CHRNB2, SCN1A, SCN1B, SCN9A
- Muscular distrophy (Duchenne and others): DMD, ANO5, SMN1, SMN2, CAPN3, DYSF, SGCG, SGCB, SGCD, TTN
- Parkinson: PARK2, PARK7
In Pediatrics area, we offer genetic studies focused on the health of the little ones from syndromes like Noonan or Rett to common inherited pathologies.
- Aarskog syndrome: FGD1
- Coffin-Lowry syndrome: RPS6KA3
- Rett syndrome: CDKL5, MECP2, NTNG1
- Rubinstein Tayb syndrome: CREBBP, EP300
- Noonan syndrome: PTPN11, RAF1, SOS1, NRAS, BRAF, KRAS
PANELSOne of our great developments is the use of gene panels that allow a complete and personalized approach to the most common diseases
- Hereditary gastric cancer panel: APC, BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A, CTNNA1, EPCAM, KIT, MAP3K6, MET, MLH1, MSH2, MSH6, NF1, PDGFRA, PMS2, PTEN, SDHA, SDHB, SDHC, SDHD, SMAD4, STK11, TP53
- Hereditary breast and ovarian cancer : AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FAM175A, FANCC, MLH1, MRE11A, MSH2,MSH6, MUTYH, NBN, NF1, PALB2, PIK3CA, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, RINT1, SDHB, SDHD, SMARCA4, STK11, TP53, XRCC2
- Hereditary melanoma panel: BAP1, BRCA1, BRCA2, CDK4, CDKN2A, MC1R, MITF, POLE, POT1, PTEN, RB1, TERT, TP53
- Hereditary thyroid cancer: APC, CHEK2, DICER1, MEN1, PRKAR1A, PTEN, RET, SDHB, SDHD, TP53, WRN
- Sarcoma panel: IHQ (15 AC), X;18, CDK4, MDM2
For studies whose required sample is peripheral blood or bone narrow, it will be necessary 3 – 5 ml sent in room temperature.
For studies that require DNA, it will need to have concentration greater than 50 ng/µl and with absorbances within parameters.
In those studies made on RNA (PaxGene tubes) and in liquid biopsy (Streck tubes).
The delivery date for molecular biology studies depends on each study. To know the delivery date of all our studies, consult our portfolio or contact us.
When you have a sample to send us, you must send the duly completed study request to email@example.com requesting the collection of it. After the email, we will send the Courier to pick it up.
If the samples sent are paraffin or EDTA tubes, due their characteristics, ice blocks are not necessary to include. However, if the samples are PaxGene or Streck tubes it will be necessary to include at least one ice block.
Once the study is finished, we will notify you that the report is available and can be downloaded through the user area of our website, using the username and password that we will provide.
Currently, we have two payment methods: wire transfer or credit card by the POS that can be found on our website.
Actualmente, disponemos de dos métodos de pago: mediante transferencia bancaria o con tarjeta de crédito a través de la TPV que podrán encontrar en nuestra página web.
Yes, it is free if the price of the requested studies exceeds 500 €.
Yes, we keep the backup material in our laboratory and can be returned when requested. The return costs will be paid by the client.