RARE DISEASES GENYCA_2018 TAT* CODE TEST OMIM ANALYSIS OF: GENES SAMPLE SPECIALITY (turnaraound time) 5 ml blood EDTA/Saliva SRD5A1-S Steroid 5-alpha-reductase *184753 cds SRD5A1 1 month Oncologic on swab 5 ml blood EDTA/Saliva ABL1-S ABL1, Gene *189980 cds ABL1 3 months Oncologic on swab 5 ml blood EDTA/Saliva GCDH-S Glutaric Acidemia Type I 231670 cds GCDH 4 weeks Metabolic on swab ACAT1, BCKDHA, BCKDHB, DBT, 251000, 251100, 251110, GCDH, HMGCL, IVD, MMAA, ACID-N Isolated Methylmalonic Acidemia 251120, 277410, 607481, cds 5 ml blood EDTA 3 months Metabolic MMAB, MMACHC, MCCC1, 607568, 608419, 609058 MCCC2, MUT, PCCA, PCCB 5 ml blood EDTA/Saliva SLC4A1-S Renal Tubular Distal Acidosis 611590 cds SLC4A1 6 weeks Hematologic on swab 5 ml blood EDTA/Saliva AUH-S 3-methylglutaconic aciduria, type I 250950 cds AUH 2 months Metabolic on swab 5 ml blood EDTA/Saliva IDH2-S D-2-hydroxyglutaric aciduria 2 613657 cds IDH2 6 weeks Multisystemic on swab ACYL-COA Dehydrogenase Medium-Chain, c.985A>G 5 ml blood EDTA/Saliva ACADM-V 201450 ACADM 1 month Metabolic Deficiency of (p.Lys304Glu) on swab ACYL-COA Dehydrogenase Medium-Chain, ACADM-S 201450 cds ACADM 5 ml blood EDTA 2 months Metabolic Deficiency of 5 ml blood EDTA/Saliva FGFR3-V Achondroplasia 100800 p.G380R, p.G375C FGFR3 2 weeks Musculoskeletal on swab 5 ml blood EDTA/Saliva ITGB2-S Leukocyte adhesion deficiency (LAD) 116920 cds ITGB2 2 months Hematologic on swab 5 ml blood EDTA/Saliva ADIPOQ-V Adiponectin (Hipoadiponectinemia) 612556 c.276G>T ADIPOQ 1 week Metabolic on swab ABCD1-D Adrenoleukodystrophy (X-linked) 300100 Delecions ABCD1 5 ml blood EDTA 5 weeks Neurologic 5 ml blood EDTA/Saliva ABCD1-S Adrenoleukodystrophy (X-linked) 300100 cds ABCD1 6 weeks Neurologic on swab 5 ml blood EDTA/Saliva FGA-S Afibrinogenemia, congenital 202400 cds FGA 4 weeks Hematologic on swab 5 ml blood EDTA/Saliva FGB-S Afibrinogenemia, congenital 202400 cds FGB 4 weeks Hematologic on swab 5 ml blood EDTA/Saliva FGG-S Afibrinogenemia, congenital 202400 cds FGG 4 weeks Hematologic on swab Congenital bilateral absence of vas 5 ml blood EDTA/Saliva Gynecological, CFTR-V 277180 36 mutations + Tn CFTR 2 weeks deferens (CBAVD) on swab Reproductive 5 ml blood EDTA/Saliva Dermatologic / TYR-S Albinism oculocutaneous Type IA (OCA1A) 203100, 606952 cds TYR 6 weeks on swab Ophthalmologic Dermatologic / OCA2-D Albinism oculocutaneous Type II (OCA2) 203200 Delecions OCA2 5 ml blood EDTA 3 weeks Ophthalmologic Dermatologic / OCA2-S Albinism oculocutaneous Type II (OCA2) 203200 cds OCA2 5 ml blood EDTA 2 months Ophthalmologic 5 ml blood EDTA/Saliva GFAP-S Alexander Disease 203450 cds GFAP 2 months Neurologic on swab GENYCA (+34) 91.634.61.06 [email protected] C/ Alegría 18, Majadahonda 28220 Madrid (Spain) RARE DISEASES GENYCA_2018 TAT* CODE TEST OMIM ANALYSIS OF: GENES SAMPLE SPECIALITY (turnaraound time) 5 ml blood EDTA/Saliva SERPINA1-S Alpha-1-Antitrypsin Deficiency (AAT) 613490 Variants Z, S, M SERPINA1 1 month Metabolic on swab COL4A3-S Alport Syndrome (Autosomal Dominant) 104200,203780 cds COL4A3 5 ml blood EDTA 6 weeks Multisystemic COL4A4-S Alport Syndrome (Autosomal Recessive) 203780 cds COL4A4 5 ml blood EDTA 6 weeks Multisystemic COL4A3-S1 Alport Syndrome (Autosomal Recessive) 203780 cds COL4A3 5 ml blood EDTA 6 weeks Multisystemic COL4A5-D Alport Syndrome (X-linked, ATS) 301050 cds COL4A5 5 ml blood EDTA 4 months Multisystemic COL4A5-S Alport Syndrome (X-linked, ATS) 301050 cds COL4A5 5 ml blood EDTA 6 weeks Multisystemic Alzheimer Disease Type 2 (AD2), Late 5 ml blood EDTA/Saliva APOE-V 104310 Genotype E2/E3/E4 APOE 2 weeks Neurologic Onset on swab Exons 4-7, intrn 8 (PSEN1); Exons 5, 6, 104300,104310,607822,6 ALZH-S Alzheimer Disease, Familial Early-onset 8 (PSEN2); Exons 16- PSEN1, PSEN2, APP, A2M, APOE 5 ml blood EDTA 5 weeks Neurologic 06889 17 (APP), genotype APOE 5 ml blood EDTA/Saliva APP-E Alzheimer Disease Familial Type 1 (AD1) 104300 Exons 16, 17 APP 6 weeks Neurologic on swab 5 ml blood EDTA/Saliva APP-S Alzheimer Disease Familial Type 1 (AD1) 104300 cds APP 7 weeks Neurologic on swab 5 ml blood EDTA/Saliva PSEN1-S Alzheimer Disease Familial Type 3 (AD3) 607822 cds PSEN1 2 months Neurologic on swab 5 ml blood EDTA/Saliva PSEN2-S Alzheimer Disease Familial Type 4 (AD4) 606889 cds PSEN2 6 weeks Neurologic on swab RPGRIP1-S Leber congenital amaurosis (LCA 6) 204000 cds RPGRIP1 5 ml blood EDTA 2 months Ophthalmologic 5 ml blood EDTA/Saliva LRAT-S Leber congenital amaurosis 14 (LCA 14) 613341 cds LRAT 3 weeks Ophthalmologic on swab RPE65-S Leber congenital amaurosis 2 (LCA 2) 204100 cds RPE65 5 ml blood EDTA 6 weeks Ophthalmologic c.954-2A>T, p.His226Gln, 5 ml blood EDTA/Saliva MMP20-S Amelogenesis imperfecta, type IIA2 612529 MMP20 3 weeks Odontologic p.Trp34Ter, on swab p.His204Arg 5 ml blood EDTA/Saliva DLX3-V Amelogenesis imperfecta, type IV 104510 c.561_562delCT DLX3 2 weeks Odontologic on swab Amyloidosis hereditary, transthyretin- 5 ml blood EDTA/Saliva TTR-S 105210 cds TTR 6 weeks Multisystemic related on swab 5 ml blood EDTA/Saliva HBB-V Sickle cell anemia 603903 p.E6V HBB 2 weeks Hematologic on swab 5 ml blood EDTA/Saliva GATA1-S Thrombocytopenia anemia 300367, 314050, 300835 cds GATA1 6 weeks Hematologic on swab GENYCA (+34) 91.634.61.06 [email protected] C/ Alegría 18, Majadahonda 28220 Madrid (Spain) RARE DISEASES GENYCA_2018 TAT* CODE TEST OMIM ANALYSIS OF: GENES SAMPLE SPECIALITY (turnaraound time) Deletions, metilation, UBE3A-D Angelman Syndrome 105830 UBE3A 5 ml blood EDTA 4 weeks Neurologic uniparental disomy 5 ml blood EDTA/Saliva UBE3A-S Angelman Syndrome 105830 cds UBE3A 2 months Neurologic on swab Angioedema hereditary types I and II (C1 5 ml blood EDTA/Saliva SERPING1-S 106100 cds SERPING1 (C1NH) 5 weeks Inmunologic esterase inhibitor, deficiency of). on swab p.Thr309Lys, 5 ml blood EDTA/Saliva F12-V1 Angioedema hereditary type III 610618 F12 1 month Multisystemic p.Thr309Arg on swab FGFR2-S Apert Syndrome 101200 cds FGFR2 5 ml blood EDTA 2 months Musculoskeletal Arthrogryposis multiplex congenita, distal, 5 ml blood EDTA/Saliva TPM2-S 108120 cds TPM2 6 weeks Musculoskeletal type 1 on swab Episodic ataxia type 1 (Isaac-Mertens 5 ml blood EDTA/Saliva KCNA1-S 160120 cds KCNA1 6 weeks Neurologic Syndrome) on swab 5 ml blood EDTA/Saliva CACNA1A-S Episodic ataxia, type 2 108500 cds CACNA1A 6 weeks Neurologic on swab 5 ml blood EDTA/Saliva CACNB4-S Episodic ataxia, type 5 613855 cds CACNB4 1 month Neurologic on swab ATXN1-V Spinocerebellar Ataxia Dominant SCA1 164400 Expansion CAG ATXN1 5 ml blood EDTA 4 weeks Neurologic PPP2R2B-V Spinocerebellar Ataxia Dominant SCA12 604326 Expansion CAG PPP2R2B 5 ml blood EDTA 4 weeks Neurologic TBP-V Spinocerebellar Ataxia Dominant SCA17 607136 Expansion CAG/CAA TBP 5 ml blood EDTA 4 weeks Neurologic ATXN2-V Spinocerebellar Ataxia Dominant SCA2 183090 Expansion CAG ATXN2 5 ml blood EDTA 4 weeks Neurologic 5 ml blood EDTA/Saliva TMEM240-S Spinocerebellar Ataxia Dominant SCA21 607454 cds TMEM240 1 month Neurologic on swab Spinocerebellar Ataxia Dominant SCA3 ATXN3-V 109150 Expansion CAG ATXN3 5 ml blood EDTA 4 weeks Neurologic (Machado-Joseph Disease) SPTBN2-S Spinocerebellar Ataxia Dominant SCA5 600224 cds SPTBN2 5 ml blood EDTA 3 months Neurologic CACNA1A-V Spinocerebellar Ataxia Dominant SCA6 183086 Expansion CAG CACNA1A 5 ml blood EDTA 4 weeks Neurologic ATXN7-V Spinocerebellar Ataxia Dominant SCA7 164500 Expansion CAG ATXN7 5 ml blood EDTA 4 weeks Neurologic ATXN8OS-V Spinocerebellar Ataxia Dominant SCA8 608768 Expansion CTG ATXN8OS 5 ml blood EDTA 4 weeks Neurologic 5 ml blood EDTA/Saliva ATP2B3-S Spinocerebellar Ataxia X Linked 302500 cds ATP2B3 2 weeks Neurologic on swab Ataxia-telangiectasia (Louis-Bar, Deletions/Duplication ATM-D 208900 ATM 5 ml blood EDTA 6 weeks Neurologic Syndrome) s Ataxia-telangiectasia (Louis-Bar, ATM-S 208900 cds ATM 5 ml blood EDTA 3 weeks Neurologic Syndrome) Dentatorubro-pallidoluysian Atrophy ATN1-AF 125370 Expansion CAG ATN1 5 ml blood EDTA 1 month Neurologic (Naito-Oyanagi disease) (DRPLA) GENYCA (+34) 91.634.61.06 [email protected] C/ Alegría 18, Majadahonda 28220 Madrid (Spain) RARE DISEASES GENYCA_2018 TAT* CODE TEST OMIM ANALYSIS OF: GENES SAMPLE SPECIALITY (turnaraound time) Deletions/Duplication SMN1-D Spinal Muscular Atrophy (SMA) 253300 SMN1 5 ml blood EDTA 4 weeks Neurologic s Spinal Muscular Atrophy (SMA-LED) DYNC1H1-S 158600 cds DYNC1H1 5 ml blood EDTA 5 months Musculoskeletal (Kugelberg-Welander Syndrome) TRPV4-S Scapuloperoneal spinal muscular atrophy 181405 cds TRPV4 5 ml blood EDTA 2 months Musculoskeletal Spinal and Bulbar Muscular Atrophy of 5 ml blood EDTA/Saliva AR-V 313200 Expansion CAG AR 1 month Neurologic Kennedy (SBMA) on swab 5 ml blood EDTA/Saliva OPA1-E Optic Atrophy Dominant Type 1 (ADOA) 165500 Exones 8-16, 27-28 OPA1 4 weeks Ophthalmologic on swab OPA1-S Optic Atrophy Dominant Type 1 (ADOA) 165500 cds OPA1 5 ml blood EDTA 2 months Ophthalmologic 5 ml blood EDTA/Saliva OPA3-V Optic Atrophy Type 3 with cataract 165300 p.G93S, p.Q105E OPA3 2 weeks Ophthalmologic on swab 5 ml blood EDTA/Saliva OPA3-S Optic Atrophy Type 3 with cataract 165300 cds OPA3 3 weeks Ophthalmologic on swab ARX, CACNA1C, CACNA1F, CACNA1H, CNTN4N, CNTNAP2, EN2, FOXP2, GABRA5, GABRB3, GABRG3, HOXA1, LAMB1, AUTIS-N Autism, non syndormic cds MECP2, NLGN3, NLGN4X, 5 ml blood EDTA 3 months Neurologic NRXN1, OXTR, PCDH19, PDE8B, PTCHD1, RELN, RPL10, SHANK3, SLC25A12, SLC6A4, SLC9A9, UBE3A BCR-S BCR, Gene *151410 cds BCR 5 ml blood EDTA 3 months Oncologic 5 ml blood EDTA/Saliva DICER1-S Pleuropulmonary blastoma 601200