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COMPLETE TEST PORTFOLIO

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29 testsAll diagnostics
01

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.
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02

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

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03

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

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04

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

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05

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

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06

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

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07

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

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08

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

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09

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

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10

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

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11

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

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12

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.
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13

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.
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14

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.
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15

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.
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16

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.
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17

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.
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18

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.
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19

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.
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20

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.
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21

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.
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22

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.
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23

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

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24

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

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25

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

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26

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.
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27

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

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28

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.
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29

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.
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Scope note: a listed gene does not mean every transcript, region, or variant class is detectable and reportable. Confirm current validated coverage and reporting rules before ordering.

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