Guidance
Genetic Counseling
Choose a test with the clinical and family context in view.
SCOPEScope confirmed per case
MATERIALMedical records and a three-generation family history; no laboratory sample is required for the first discussion.
Open dedicated test page →Prevention · PRV01
Genetic Prevention for Tumor Diseases
Inherited cancer risk across major hereditary tumor syndromes.
SCOPE54 published genes
MATERIAL1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1 + 45 more
Open dedicated test page →Prevention · PRV03
Thrombosis & Coagulation Prevention
Inherited clotting and bleeding predisposition in one module.
SCOPE28 published genes
MATERIAL1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
ADAMTS13, F10, F11, F12, F13A1, F13B, F2, F5, F7 + 19 more
Open dedicated test page →Prevention · PRV05
Familial Hypercholesterolemia Prevention
Four core genes for inherited very-high LDL cholesterol.
SCOPE4 published genes
MATERIAL1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
APOB, LDLR, LDLRAP1, PCSK9
Open dedicated test page →Prevention · PRV07
Malignant Hyperthermia Prevention
Genetic susceptibility relevant before triggering anesthesia.
SCOPE2 published genes
MATERIAL1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
CACNA1S, RYR1
Open dedicated test page →Prevention · PRV13
Inherited Kidney Disease Prevention
Focused risk assessment for polycystic kidney disease.
SCOPE2 published genes
MATERIAL1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
PKD1, PKD2
Open dedicated test page →Prevention · PRV02
Cardiovascular Disease Prevention
Inherited arrhythmia, cardiomyopathy, aortopathy, and vascular risk.
SCOPE56 published genes
MATERIAL1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
ACTA2, ACTC1, ACVRL1, ALPK3, BAG3, BMPR2, CALM1, CALM2, CALM3 + 47 more
Open dedicated test page →Prevention · PRV04
Iron & Copper Storage Prevention
Hereditary iron overload and copper-storage disorders.
SCOPE8 published genes
MATERIAL1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
ATP7B, CP, GLRX5, HAMP, HFE, HJV, SLC40A1, TFR2
Open dedicated test page →Prevention · PRV06
Eye Disease Prevention
Actionable inherited retinal and glaucoma risk.
SCOPE5 published genes
MATERIAL1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
ABCA4, CRB1, GUCY2D, MYOC, RPE65
Open dedicated test page →Prevention · PRV08
Drug Metabolization / Pharmacogenetics
Genetic information relevant to dosing or selection of more than 100 medicines.
SCOPE21 published genes
MATERIAL1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
ABCG2, CACNA1S, CYP2B6, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2 + 12 more
Open dedicated test page →Prevention · PRV14
ACMG Actionable Findings Prevention
A cross-specialty screen for medically actionable inherited conditions.
SCOPE84 published genes
MATERIAL1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
ABCD1, ACTA2, ACTC1, ACVRL1, APC, APOB, ATP7B, BAG3, BMPR1A + 75 more
Open dedicated test page →Family planning
Family Planning Panel
Joint carrier-risk assessment before pregnancy.
SCOPEScope confirmed per case
MATERIALEDTA blood or genomic DNA from both partners; exact sample specifications are confirmed before collection.
Open dedicated test page →Family planning
Fertility Panel
Genetic contributors to female or male infertility.
SCOPEScope confirmed per case
MATERIAL1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
Open dedicated test page →Rare disease
Rare Disease Panels
A defined gene set matched to a clear phenotype.
SCOPEScope confirmed per case
MATERIAL1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
Open dedicated test page →Exome diagnostics
ExomeFocus
A high-impact, cost-efficient first exome step.
SCOPEExome-wide scope
MATERIAL1–2 ml EDTA blood or 1–2 µg genomic DNA; DBS, buccal swab, and saliva can be reviewed.
Open dedicated test page →Exome diagnostics
Single ExomeXtra
Broad rare-disease analysis from one patient sample.
SCOPEExome-wide scope
MATERIALPatient: 1–2 ml EDTA blood or 1–2 µg genomic DNA; DBS, buccal swab, or saliva can be reviewed.
Open dedicated test page →Exome diagnostics
Trio ExomeXtra
Patient and both parents for stronger inheritance resolution.
SCOPEExome-wide scope
MATERIALPatient and both parents: 1–2 ml EDTA blood or 1–2 µg genomic DNA per person; DBS, buccal swab, or saliva can be reviewed.
Open dedicated test page →Exome diagnostics
Prenatal ExomeXtra
Fetal–parent trio analysis for time-sensitive prenatal questions.
SCOPEExome-wide scope
MATERIALFetal material: native or cultured amniotic fluid, chorionic villi, extracted fetal DNA, or pregnancy-loss material. Parents: 1–2 ml EDTA blood or 1–2 µg DNA each; at least a maternal sample is required for contamination control if a full trio is impossible.
Open dedicated test page →Diagnostic methods
Array CGH
Genome-wide deletions and duplications.
SCOPEScope confirmed per case
MATERIAL1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
Open dedicated test page →Diagnostic methods
Prenatal Array CGH
Genome-wide fetal copy-number analysis.
SCOPEScope confirmed per case
MATERIALAmniotic fluid, chorionic villi, extracted fetal DNA, or pregnancy-loss material; a maternal sample may be required for contamination testing.
Open dedicated test page →Diagnostic methods
Single Gene Analysis
Focused testing when one gene is strongly suspected.
SCOPEScope confirmed per case
MATERIAL1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
Open dedicated test page →Diagnostic methods
Segregation Analysis
Test a documented familial variant in a relative.
SCOPEScope confirmed per case
MATERIALEDTA blood or DNA; prenatal material must be reviewed in advance.
Open dedicated test page →Tumor diagnostics · TUM01
CancerPrecision
Comprehensive tumor–normal profiling for solid tumors.
SCOPE781 published genes
MATERIALTumor with at least 20% tumor content plus normal tissue: recommended FFPE block (minimum 5 × 5 × 5 mm), at least 10 unstained slides, >200 ng tumor DNA, fresh-frozen tissue, or 3 × 10 ml cfDNA tubes; normal 1–2 ml EDTA blood or 1–2 µg DNA.
ABCB1, ABCG2, ABL1, ABL2, ABRAXAS1, ACD, ACVR1, ACVR2A, ADGRA2 + 772 more
Open dedicated test page →Tumor diagnostics
CancerEssential
Focused tumor panels matched to a common solid-tumor entity.
SCOPE69 published genes
MATERIALTumor DNA >200 ng or FFPE block/slides with at least 20% tumor. Matched normal tissue is required for MSI analysis and for selected germline distinctions.
AKT1, ALK, ATM, ATR, ATRX, BARD1, BAT25, BAT26, BRAF + 60 more
Open dedicated test page →Tumor diagnostics
CancerFusionRx
RNA-based detection of known and novel fusion transcripts.
SCOPE219 published genes
MATERIALTumor RNA from an FFPE block or at least 10 unstained 10 µm slides with at least 20% tumor content; exact RNA quality and quantity are confirmed.
ABL1, ACTB, ADGRG7, AFAP1, AFF2, AGK, AKAP12, AKAP4, AKAP9 + 210 more
Open dedicated test page →Tumor diagnostics
CancerNeo
Neoantigen identification for a personalized tumor-vaccine concept.
SCOPEScope confirmed per case
MATERIALNormal 1–2 ml EDTA blood or 1–2 µg DNA plus tumor material with at least 20% tumor content. Tumor RNA is strongly beneficial and required to confirm expression of candidate neoantigens.
Open dedicated test page →Tumor diagnostics
CancerDetect
Predefined cfDNA liquid biopsy for actionable variants and follow-up.
SCOPE33 published genes
MATERIALRecommended: 3 × 10 ml cfDNA blood tubes. Ascites, cerebrospinal fluid, or pancreatic-cyst fluid can be reviewed case by case.
AKT1, ALK, AR, BRAF, CDKN2A, CTNNB1, EGFR, ERBB2, ERBB3 + 24 more
Open dedicated test page →Tumor diagnostics
CancerMRD
Tumor-informed, personalized minimal-residual-disease monitoring.
SCOPEPersonalized; no fixed list
MATERIALFingerprint phase: tumor with ≥20% tumor content plus 1–2 ml EDTA blood or 1–2 µg normal DNA. Monitoring phase: 3 × 10 ml cfDNA tubes at each time point.
Open dedicated test page →Tumor diagnostics
CancerAdvice
Evidence-based therapy recommendation built on the molecular report.
SCOPEInterpretation service
MATERIALNo new specimen may be required if a suitable tumor report exists. Provide molecular and pathology reports, diagnosis and metastatic sites, histology, ECOG, comorbidities, treatment history, progression/imaging, tumor markers, and planned procedures.
Open dedicated test page →