OVERVIEW

WHAT IS ADVENTIA?

Adventia is a new genetic test for carrier screening to determine whether a phenotypically healthy person is a carrier of a genetic disease. The genetic insight provided by Adventia can inform, guide and empower people on their reproductive choices and minimize the risk of people who are carriers transmitting a genetic disease to their children. Adventia offers a choice of different panels and testing for up to 229 moderate to severe autosomal recessive and X-linked genetic diseases.

WHY GET TESTED?

Anyone can carry certain mutations (genetic changes) in their body. Some mutations may have no effect on our health and development, while others can cause a genetic disease. When an individual has a mutation in one of their genes, but the mutation is not powerful enough to be expressed, that individual is a carrier of a recessive disease. Two carriers of the same recessive disease can have a child who is affected, if the child inherits the mutation from both of them.

As carriers are asymptomatic, they are unaware of their carrier status and the risk of passing a mutation to their children. In fact, many mutations for recessive diseases could be inherited via multiple generations without clinical manifestation. Unless you have been tested, it is impossible to know whether you are a carrier of a recessive disease.

WHO COULD BENEFIT FROM ADVENTIA

Adventia is a beneficial and comprehensive test for everyone based on a novel and powerful technology and can provide meaningful results in a short turn-around time to help you minimize your risk of transmitting a genetic disorder to your children.

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Couples planning to start their
families and want to know
about their carrier status

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Any individual or couple going through
assisted reproduction, including IVF

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Sperm and oocyte donors,
and recipients of sperm or oocyte donation

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Couples who are already pregnant and
want to know whether their child has
a risk of having a genetic disease

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High-risk population groups
for specific diseases

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People with a family history of a
genetic mutation

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Any individual wishing to know more
about their genetic background

WHAT DOES ADVENTIA TEST FOR?

Adventia screens for autosomal recessive and X-linked diseases.
Carriers of recessive diseases have one healthy gene and one gene with the mutation.

Autosomal Recessive

Autosomal Recessive Diseases affect chromosome pairs 1 to 22.
If both parents are carriers, they have:
● 1 in 4 chance of having an unaffected child
● 1 in 2 chance of having a child who is also a carrier,
who has inherited the mutation from only one parent
● 1 in 4 chance of having an affected child, who has inherited mutations from both parents.

X-Linked

X-Linked Diseases affect the X chromosome, found on the 23rd chromosome pair
which determines gender.
● 1 in 2 chance of having a carrier daughter. Female carriers may or may not
exhibit disease characteristics due to X-inactivation*
● 1 in 2 chance of having an affected son. Males who have inherited the mutation are always affected, as they only have one X chromosome.

ADVENTIA PANELS

Adventia tests for autosomal recessive and X-linked diseases which have moderate to
severe phenotype, are high in carrier frequency, can compromise quality of life and
may be manageable through early interventions.

COMPREHENSIVE PANEL

229 diseases that have moderate to severe well-defined phenotype and high cumulative frequency. The Comprehensive panel includes all diseases of the Core panel, and covers a wide range of metabolic, cardiovascular and hematological diseases, amongst others.

FOCUS PANELS

Six individual panels for highly frequent and severe genetic diseases:
● A-Thalassemia
● B-Haemoglobinopathies
● Cystic Fibrosis
● Duchenne Muscular Dystrophy
● Fragile X Syndrome
● Spinal Muscular Atrophy

CORE PANEL

20 genetic diseases of high incidence and clinical severity. The Core panel includes all diseases tested in the Focus panels, and other diseases including Phenylketonuria, Fanconi Anemia Group C and Tay-Sachs disease.

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FOCUS PANELS
CORE PANEL
COMPREHENSIVE PANEL

ADVENTIA, TESTING BEYOND ETHNICALLY-PREVALENT DISEASES

Ethnicity-based carrier screening only tests for a very limited number of diseases and may leave individuals who are multiracial or unaware of their ethnic or genetic background undiagnosed. The latest guidelines from ACMG* emphasize that while there are certain diseases that are more prevalent in some populations, due to genetic diversity and migration, a carrier screening panel that is neutral to ethnicity and population promotes equity and inclusion.

*American College of Medical Genetics and Genomics

WHY CHOOSE ADVENTIA CARRIER SCREENING?

Adventia was specifically designed to be a beneficial and comprehensive test for everyone, regardless of ethnic background and family history. It is based on a novel and powerful technology and can provide meaningful results in a short turn-around time to help you minimize your risk of transmitting a genetic disease to your children. The diseases tested by Adventia:

have moderate to severe phenotype (characteristics)
are high in carrier frequency
can severely compromise quality of life
may be manageable through early interventions

ROBUST TECHNOLOGICAL DESIGN

TARGETED TECHNOLOGY
Adventia carrier screening is based on a novel, target capture enrichment technology that has been thoroughly validated for its accuracy and precision.

FULL COVERAGE
Adventia screens for all coding regions on the genes of interest, increasing the chances of identifying any pathogenic or likely pathogenic mutations: single nucleotide variants, small insertions and deletions, and copy number variants.

See Technology section for details

NOVEL BIOINFORMATICS
Innovative bioinformatics pipelines analyze the sequencing data produced from each sample, increasing the sensitivity and specificity of Adventia carrier screening.

WHEN SHOULD I GET TESTED?

Adventia carrier screening can be performed by any individual or couple when they wish to learn more about their genetic information to minimize the risk of transmitting a genetic disease to their children. Adventia can also be done during pregnancy if prospective parents wish to know whether their child has a risk of having a genetic disease.

HOW CAN I TAKE THE ADVENTIA CARRIER SCREENING?
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Ask your healthcare provider about Adventia

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Your healthcare provider will collect a cheek swab sample from you

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The sample will be sent to our laboratory

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The sample will be analyzed in our laboratory

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Results will be sent to your healthcare provider within 2-3 weeks

POSSIBLE OUTCOMES OF THE TEST

The Adventia report will have information on the following:
Results on genes tested
Thorough interpretation and clinical significance of mutations detected

Adventia reports on pathogenic and likely pathogenic variants.

WHAT CAN I DO AFTER ADVENTIA CARRIER SCREENING?

Depending on the results, the disease, and whether the test was performed by an individual wanting to know more about their genetic profile or a couple planning their family, we recommend the following:

ACCEPTED MATERIAL

Cheek swab using ADVENTIA kit

TURNAROUND TIME

10-15 working days

TECHNOLOGY

This information applies to Core and Comprehensive panels. Exceptions apply

gDNA is extracted using a standardized methodology and subjected to mechanical fragmentation prior to DNA library preparation. DNA enrichment for the genomic regions of interest is carried out using a solution-based hybridization method, followed by next generation sequencing (NGS). Single nucleotide variants, small insertions and deletions (≤30bp), and copy number variations (CNVs) are reported. All positive CNVs are confirmed using an orthogonal method. The test aims to detect all coding exons, of MANE and/or Canonical transcripts, and 10bp of adjacent intronic sequence.
Exceptions may include: regions containing repeats, sequences of high homology such as segmental duplications and pseudogenes, as well as regions of extreme GC-content.

Variants are classified according to the criteria set by the American College of Medical Genetics and Genomics. Classification and interpretation of variants is performed using the Varsome Clinical platform, and is according to the published knowledge at the time of testing.

Test Methodology
SEQUENCING

Next generation sequencing (Illumina)

ENRICHMENT

Proprietary Target Capture Enrichment Technology (Click here to see our Publications)

SNV AND CNV DATA ANALYSIS

GATK and Vardict variant callers. Targeted CNV calling using a proprietary bioinformatics pipeline utilizing a circular binary segmentation algorithm

DATA EVALUATION

Varsome Clinical by Saphetor

REFERENCE GENOME

hg19, NCBI GRCh37

QUALITY CRITERIA

>30 (precision 99,9%)
Minimum percentage of bases with RD greater than 20X = 97%

SNV DETECTION SENSITIVITY

Sensitivity: 100% (87-100%)
Specificity: 100% (99.8%-100%)

CLASSIFICATION OF VARIANTS

Richards et al. 2015, Genet Med 17:405; ClinGen Sequence Variant Interpretation Recommendation for PM2-Version 1.0; Tavtigian SV et al. 2020, Hum Mutat 41(10); Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines; Pejaver V et al. 2022, bioRxiv;

IN SILICO ALGORITHMS

ALoFT, BayesDel, DEOGEN2, Eigen, Eigen-PC, FATHMM, FATHMM-XF, FATHMM-MKL, fitCons, LIST-S2, LRT, M-CAP, MetaLR, MetaRNN, MetaSVM, MPC, MutationAssessor, MutationTaster, MutPred, MVP, Polyphen-2, PrimateAI, PROVEAN, REVEL, SIFT, SIFT4G, dbscSNV

DATABASES

More than 100 datasets including ClinVar, gnomAD, ExAC, ClinGen, DECIPHER, etc

SPECIFICATIONS FOR FOCUS PANELS

The following information applies to Adventia Focus panels:
• Alpha Thalassemia: Analysis performed via MLPA.
• B-Haemoglobinopathies: Analysis performed via Sanger Sequencing.
• Cystic Fibrosis: Analysis performed via Next Generation Sequencing.
• Duchenne Muscular Dystrophy: Analysis performed via MLPA.
• Fragile X syndrome: Analysis performed via Fragment analysis.
• Spinal Muscular Atrophy: Analysis performed via MLPA.

SUPPORTING DOCUMENTS

(click to download)
Adventia Comprehensive Panel Disorders Tested
Adventia Detection Rate and Carrier frequency Table

OUR TESTS

Genes: ABCD1, ACAD9, ACADM, ACOX1, ACSF3, ADAMTS2, AGA, AGL, AGPS, AGXT, AIRE, ALDH3A2, ALDOB, ALG6, ALMS1, ALPL, AMT, AQP2, ARSA, ASL, ASNS, ASPA, ASS1, ATM, ATP6V1B1, ATP7B, BBS1, BBS12, BCKDHB, BCS1L, BLM, BSND, BTD, CAPN3, CBS, CEP290, CERKL, CFTR, CHM, CHRNE, CIITA, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGB3, COL4A3, COL4A5, COL7A1, CPT1A, CPT2, CRB1, CTNS, CTSK, CYBB, CYP11B2, CYP19A1, CYP27A1, DCLRE1C, DHCR7, DHDDS, DLD, DMD, DNAH5, DNAI1, DNAI2, DYSF, EDA, EIF2B5, ELP1, EMD, ESCO2, ETFA, ETHE1, EYS, F11, F5, F9, FAH, FAM161A, FANCC, FANCG, FMR1, G6PC, GAA, GALC, GALK1, GALT, GBA, GBE1, GCDH, GFM1, GJB2, GJB6, GLA, GLDC, GNE, GNPTAB, GNPTG, GNS, GRHPR, HADHA, HAX1, HBA1, HBA2, HBB, HEXA, HEXB, HJV, HGSNAT, HLCS, HMGCL, HOGA1, HPS1, HPS3, HSD17B4, HYAL1, HYLS1, IDS, IL2RG, IVD, LAMC2, LCA5, LDLR, LHCGR, LHX3, LIFR, LIPA, LOXHD1, LPL, LRPPRC, MCCC1, MCCC2, MCOLN1, MEFV, MFSD8, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MPI, MPV17, MTM1, MTRR, MTTP, MMUT, NAGLU, NAGS, NBN, NDUFAF5, NDUFS6, NPC1, NPC2, NPHS1, NPHS2, NR2E3, NTRK1, OAT, OPA3, OTC, PAH, PCDH15, PDHA1, PDHB, PEX1, PEX10, PEX2, PEX6, PEX7, PFKM, PHGDH, PKHD1, PMM2, PPT1, PROP1, PSAP, PTS, PUS1, PYGM, RAB23, RAG2, RAPSN, RARS2, RLBP1, RMRP, RPGR, RS1, SACS, SAMHD1, SEPSECS, SGCA, SGCB, SGCG, SLC12A6, SLC17A5, SLC25A13, SLC25A15, SLC26A2, SLC26A4, SLC35A3, SLC37A4, SLC4A11, SLC6A8, SLC7A7, SMARCAL1, SMN1, SMN2, SMPD1, STAR, SUMF1, TFR2, TGM1, TH, TMEM216, TPP1, TRMU, TSFM, TTPA, TYMP, UGT1A1, USH1C, USH2A, VPS13A, VPS45, VPS53, VRK1, VSX2, WNT10A

Genes: ACADM, ASPA, BLM, CFTR, DHCR7, DMD, ELP1, FANCC, FMR1, GALT, GBA, GJB2, GJB6, HBA1, HBA2, HBB, HEXA, MCOLN1,  PAH,  SMN1, SMN2, SMPD1

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