General Information

Adventia – full panel (1 person)

Adventia Carriage Screening Full Panel (1 person) examines 231 genes associated with diseases with high frequency, moderate or severe phenotypic manifestations.

Sampling for research will be done:

• In the regions: Thursday   
• In Tbilisi: Thursday and/or Friday (in the first half of the day)

Samples will be sent on Friday afternoon! For this, the sample must be sent to the central laboratory by Friday 12:00.

The taken sample is sent and the research is conducted in the laboratory of MEDICOVER Genetics in a laboratory with international accreditation.

Test results are available within 20 working days of sampling. The answer will be sent to the E-mail address of the doctor and the patient. at the post office. It is also possible to receive on-site laboratory center.

If necessary, Synevo Laboratory offers a consultation with a geneticist.  

Instructions for use

The sample collection and transport kit is intended for the collection, transport and storage of material required for genetic research, according to the specified procedure.

Security measures

• For In Vitro Diagnostic Use.
• Buccal swab collection devices are intended for single use by one person.
• Store the kit at room temperature (15°C to 25°C). Properly stored kits are stable until the expiration date.
• Do not use an expired kit.
• Do not freeze collected samples.

Important information

• The buccal mucosa sample should be collected immediately after opening the package.
• Do not bend the swab with excessive force when collecting a patient sample, as this may cause the swab to break.
• 30 minutes before sample collection, the patient is prohibited from: smoking, taking food and liquids (except water), brushing teeth and chewing gum
• Please follow the instructions for specimen labelling, collection and transport carefully.
• Check that all patient identification data is correct and compliant before specimen packaging and shipping

Product content

Sample collection Device: Two (2) buccal swab collection devices

 Packaging materials: One (1) biosecurity bag to seal the specimen

Documentation:

1. One (1) barcode card with three (3) labels
2. Sample fill-in form with QR code on buffered envelope
3. Informed consent – ​​in a sample form

Sample collection instructions

1. Fill out the sample form. A completed and signed copy of the form must be sent with the sample.
2. Complete the patient's first and last name on the barcode label ending with BS1 and BS2 and affix it to the cheek swab collection device. Attach the remaining barcode label to the form to be filled.
3. Using gloves, open the pouch and remove the buccal swab collection device.
4. To easily open the cap of the tube, hold the swab of the plastic tube with one hand and press the white cap with your thumb.
5. Hold the swab by the handle (white cap), remove the swab from the plastic tube and place the tube on a clean surface.
6. Place the swab in your mouth on your tongue and wet it with saliva for ten seconds.
7. Move the swab on one side of the mouth between the cheek and gums in an up-down direction for 10 seconds. At the same time, massage the outside of the cheek with the other hand to increase the friction of the tampon with the mucous membrane.
8. Repeat the sequence of point 7 on the other side of the mouth.
9. After taking the sample, put the swab back into the plastic tube and close it securely.
10. Place the sample in a biosafety bag and seal securely. Repeat the same procedure with the smear sample of the other cheek.
11. Place the sealed bag in a buffered envelope.
12. Remove the cover from the adhesive strip of the envelope and seal the envelope

Order details and support

For assistance or to order additional kits, please call +(995)32 2 800 111 or email us at info@synevo.ge. Additional information is available online at Synevo.ge

Diseases screened for by the Adventia Carriage Screening Full Panel:

Except in specific cases, carrier screening examines the indicated genes by Target Capture Enrichment technology, a new generation sequencing method.

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency 1
3-Methylcrotonyl-CoA carboxylase deficiency 2
3- Methylglutacone aciduria, type 3 [Kosteff syndrome]
3-phosphoglycerate dehydrogenase deficiency
6-pyruvoisyl-tetrahydropterone deficiency (PTPS)
Abetalipoproteinemia
Achondrogenesis type 1B
Achromatopsia (CNGB3-linked)
Acute infantile liver failure (TRMU-complex
Acyl-CoA oxidase I deficiency
Adrenoleukodystrophy (X-linked)
Icardi-Gutierrez syndrome
Alpha thalassemia
Alport syndrome (COL4A3-linked)
Alport syndrome (X-linked)
Alstrom's syndrome
Anderman syndrome
Arginine succinate lyase deficiency
aromatase deficiency
Arthrogryposis with mental retardation, heartburn
Asparagine synthetase deficiency
Aspartylglycosamineuria
Ataxia with vitamin E deficiency
Ataxia telangiectasia
Autoimmune glandular syndrome type 1
Autosomal recessive polycystic kidney disease
Charlevoix-Chagounay autosomal recessive spastic ataxia
Barde-Biddle syndrome (BBS1-linked)
Barde-Biddle syndrome (BBS12-linked)
Naked lymphocyte syndrome (CIITA-clamped)
Bartter syndrome (BSND-constricted)
Batten disease (CLN3-related)
Becker muscular dystrophy (X-linked)
Beta thalassemia
Biotinidase deficiency
Bloom syndrome
Canavan disease
Carnitine palmitoyltransferase 1A deficiency
Carnitine palmitoyltransferase II deficiency
Carpenter syndrome
Hair-cartilage hypoplasia
Cerebrotendinous xanthomatosis
Choreacanthocytosis
Choroideremia (X-linked)
Chronic granulomatous disease (X-linked)
Citrine deficiency
Citrullinemia, type 1
Combined malonic and methylmalonic acidemia
Combined deficiency of oxidative phosphorylation 1
Combined deficiency of oxidative phosphorylation 3

Combined deficiency of pituitary hormones 2
Congenital glycosylation disorder, type 1A (PMM2-impaired)
Congenital glycosylation disorder, type 1B
Congenital glycosylation disorder, type 1C
Congenital nephrosis of the fin
Congenital insensitivity to pain, with anhidrosis
Congenital myasthenic syndrome (CHRNE-constricted)
Congenital myasthenic syndrome (RAPSN-complex)
Congenital neutropenia (HAX1-linked)
Congenital neutropenia (VPS45-linked)
Corneal dystrophy and perceptual deafness 1
Corticosterone methyloxidase deficiency
CRB1-linked retinal dystrophy
Creatine transporter defect [cerebral creatine deficiency syndrome 1] (X-linked)
Crigler-Najjar syndrome type I
Cystic fibrosis
cystinosis
D-bifunctional protein deficiency
Autosomal recessive deafness 77
Duchenne muscular dystrophy (X-linked)
Dystrophic epidermyolysis bullosa (COL7A1-linked)
Ehlers Danlo syndrome, type VII C
Emery-Dreyfus muscular dystrophy 1 (X-linked)
Enhanced S-cone syndrome (retinal degeneration)
Ethylmalonic encephalopathy
Fabry disease (X-linked)
Factor IX deficiency (X-linked)
Factor V Leiden thrombophilia
Factor XI deficiency
Familial dysautonomia ELP1
Familial hypercholesterolemia (LDLR-linked)
Familial Mediterranean fever
Familial nephrogenic diabetes insipidus (AQP2-linked)
Fanconi anemia, type G
Fanconi anemia, type C
Fragile X syndrome (X-linked) (test is performed by fragment analysis)

Galactokinase deficiency [galactosemia, type II]
Galactosemia
Gaucher disease
Glutaric acidemia, type 1
Glutaric acidemia, type 2A
Glycine encephalopathy (GLDC-constricted)
Glycine encephalopathy (AMT-associated)
Glycogen storage disease, type 1A
Glycogen storage disease, type 1B
Glycogen storage disease, type 2 [Pompe's disease]
Glycogen storage disease
Glycogen storage disease, type 4
Glycogen storage disease, type 5 [McArdle's disease]
Glycogen storage disease, type 7
Grizzle's syndrome
Hemochromatosis, type 2A
Hemochromatosis, type 3 (TFR2-linked)
Hereditary fructose intolerance
Hermansky–Pudlak syndrome (HPS1-linked)
Hermansky–Pudlak syndrome (HPS3-linked)
Holocarboxylase synthetase deficiency

Homocystinuria due to cystathionine beta-synthase deficiency
Homocystinuria-megaloblastic anemia type cblE
Hydrolethalus syndrome
Hypohidrosis ectodermal dysplasia (X-linked)
Hypophosphatasia (ALPL-constricted)
Inclusion body myopathy 2
Isovaleric acidemia
Huber syndrome, type 2
Connective tissue bullous epidermyolysis, Herlitz type
Juvenile retinoschisis (X-linked)
Crab disease
Lamellar ichthyosis type 1
Leber's congenital amaurosis
Leber's congenital amaurosis
Leigh syndrome, French-Canadian type

Leukoencephalopathy with white matter loss
Leydig cell hypoplasia [maluteinizing hormone resistance]
Limb-girdle muscular dystrophy, type 2A
Limb-girdle muscular dystrophy, type 2B
Limb-girdle muscular dystrophy, type 2C
Limb-girdle muscular dystrophy, type 2D
Limb-girdle muscular dystrophy, type 2E
Lipoamide dehydrogenase deficiency [maple syrup urine disease, type 3]
Adrenal lipoid hyperplasia
Lipoprotein lipase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Lysine protein intolerance
Maple syrup urine disease, type 1B
Meckel-Gruber syndrome, type 1
Medium chain acyl-CoA dehydrogenase deficiency
Megalencephalic leukoencephalopathy with subcortical cysts
Metachromic leukodystrophy (ARSA-complex)
Metachromic leukodystrophy (PSAP-associated)
Methylmalonic acidemia, cbIA type
Methylmalonic acidemia, cbIB type
Methylmalonic acidemia and homocystinuria cblC type
Methylmalonic acidemia and homocystinuria cblD type
Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
Microphthalmia/Anophthalmia (VSX2-linked)
Mitochondrial complex 1 deficiency (ACAD9-coupled)
Mitochondrial complex1 deficiency (NDUFAF5-coupled)
Mitochondrial complex 1 deficiency (NDUFS6-coupled)
Mitochondrial myopathy and sideroblastic anemia (MLASA1)
Mucolipidosis II/III
Mucolipidosis III gamma
Mucolipidosis type IV
Mucopolysaccharidosis type II [Hunter syndrome] (X-linked)
Mucopolysaccharidosis type IIIB [Sanfilippo B]
Mucopolysaccharidosis type IIIC [Sanfilippo C]
Mucopolysaccharidosis type IIID [Sanfilippo D]
Mucopolysaccharidosis type IX
Multiple sulfatase deficiency
Myoneurogastrointestinal encephalopathy (MNGIE)
Myotubular myopathy (X-linked)
N-acetylglutamate synthase deficiency
Navajo neurohepatopathy [MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome]
Neuronal ceroid lipofuscinosis (TPP1-linked)
Neuronal ceroid lipofuscinosis (MFSD8-linked)
Neuronal ceroid lipofuscinosis (CLN5-linked)
Neuronal ceroid lipofuscinosis (CLN6-linked)
Neuronal ceroid lipofuscinosis (CLN8-linked)
Neuronal ceroid lipofuscinosis (PPT1-linked)
Niemann-Pick disease, type A/B
Niemann-Pick disease, type C1/D
Niemann-Pick disease, type C2
Nishmangen Severing Syndrome
Non-syndromic hearing loss (GJB2-linked, GJB6-linked)
Odonto-onycho-dermal dysplasia / Schoff-Schultz-Passarge syndrome
Omen syndrome, RAG2-linked

Ornithine aminotransferase deficiency
Ornithine aminotransferase deficiency
Ornithine translocase deficiency [hyperornithine-hyperammonemia-homocitrullinuria (HHH) syndrome]
Pendred syndrome
Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PEX1-linked)
Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PEX2-linked)
Phenylalanine hydroxylase deficiency
Combined deficiency of pituitary hormones 3
Pontocerebellar hypoplasia, RARS2-linked
Ponto-cerebellar hypoplasia, 1A
Ponto-cerebellar hypoplasia, 2D
Ponto-cerebellar hypoplasia, 2E
Primary ciliary dyskinesia (DNAH5-linked)
Primary ciliary dyskinesia DNAI1-restricted
Primary ciliary dyskinesia DNAI2-restricted
Primary hyperoxal is type 1
Primary hyperoxal is type 2
Primary hyperoxal is type 3
Pycnodysostosis
Pyruvate dehydrogenase deficiency (PDHB-bound)
Pyruvate dehydrogenase deficiency (X-linked)
Renal tubular acidosis and deafness (ATP6V1B1-mediated)
Renal dystrophy (RLBP1-linked) [Bothnia retinal dystrophy]
Retinitis pigmentosa 59 (DHDDS-complicated)
Retinitis pigmentosa 25 (EYS-complex)
Retinitis pigmentosa 26
Retinitis pigmentosa 28
Retinitis pigmentosa (X-linked)
Limb disproportionate chondrodysplasia type 1, PEX7
Limb disproportionate chondrodysplasia type 3
Roberts syndrome
Free sialic acid accumulation disease (Salla Disease)
Sandhoff's disease
Schimke's immune-osseous dysplasia
Segawa syndrome
Severe combined immunodeficiency, Athabaskan type

Severe combined immunodeficiency (X-linked)
Sickle cell anemia
Sjogren-Larsson syndrome
Smith-Laemmli-Optiz syndrome
Spinal muscular atrophy (research is carried out by the MLPA method)
Steroid-resistant nephrotic syndrome
Stowe-Wiedemann syndrome
Tay-Sachs disease
Tyrosinemia, type 1
Usher syndrome, type 1C
Usher syndrome, type 1F
Usher syndrome, type 2A
Usher syndrome, type 3
Wilson's disease
Wolman's disease
Zellweger spectrum of disorders (PEX6-linked)
Zellweger spectrum of disorders (PEX10-linked)

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, PTS1, PUS23. PYGM, RAB2, RAG2, RAPSN, RARS1, RLBP1, RMRP, RPGR, RS1, SACS, SAMHD12, SEPSECS, SGCA, SGCB, SGCG, SLC6A17, SLC5A25, SLC13A25, SLC15A26, SLC2A26, SLC4A35, SLC3A37, SLC4A4, SLC11A6, SLC8A7, SLC7A1, SMPD1, SMN2, SMN1, SMPD1. STAR, SUMF2, TFR1, TGM216, TH, TMEM1, TPP1, TRMU, TSFM, TTPA, TYMP, UGT1A1, USH2C, USH13A, VPS45A, VPS53, VPS1, VRK2, VSX10, WNTXNUMXA