The Institute of Molecular and Medical Genetics (INGEMM) in Madrid, Spain, is now offering an NGS genetic test for Dravet syndrome and related disorders in collaboration with the Dravet Syndrome Foundation Spain. The test uses an in house epilepsy NGS panel that includes 425 genes related to epilepsy. Reports will be issued in approximately 6 months.
Under this program, samples will be analyzed at no cost (except for blood extraction and shipping cost which must be covered by the submitting party). Requests from all over the world that meet the requirement criteria will be accepted.
In order to qualify for this program, the test must be requested by a physician for a patient with suspected Dravet syndrome and include all requested documents and samples.
Suspected Dravet syndrome criteria
Under the collaboration with the Dravet Syndrome Foundation Spain, patients with Dravet-like phenotype will be accepted for this program. Dravet-like phenotype is considered when the patient meets at least two of the following criteria:
– 2 seizures under 6 months of age,
– Presence of partial, hemiclonic or myoclonic seizures in the first year of life,
– Seizures associated with vaccinations, hot baths or warm temperatures in the first year of life,
– Febrile seizures present over 5 years of age,
– Frequent febrile seizures, severe seizures, or prolonged seizures (status epilepticus), in the first year of life./p>
Please specify in your email when you submit the samples and documents how the patient meets these criteria so that we can confirm eligibility for the study. You can also contact us at email@example.com to clarify these criteria if you are not sure if your patient meets these criteria.
Required documents and samples
If your patient meets the Dravet-like criteria, we will need the following documents and samples in order to perform the 425 gene panel. Please note that samples will not be analyzed if any of the following samples or documents is missing.
1. Sample of the index patient and both parents: a) peripheral blood samples in EDTA (minimum amount of 3 ml) that should arrive at the INGEMM within a maximum of 24-48 hours post extraction, pay attention to customs documents to avoid delays; or b) genomic DNA from lymphocytes, preferably (minimum amount of 10 µg, minimum concentration of 50 ng/µl, A260/280 ratio near to 2)
2. HPO questionnaire of clinical data (phenotype) of the patient and pharmacological questionnaire, together with a copy of an updated clinical report if available.
3. Informed consent.
How to request the test
Documents: The completed HPO and pharmacological questionnaire, informed consent and any questions on this program must be submitted electronically to firstname.lastname@example.org
Note that the PDF documents can be completed electronically without needing to be print and scanned.
HPO questionnaire of clinical data (phenotype) of the patient and pharmacological questionnaire
Samples: samples of the index patient and both parents should be sent to the following mailing address:
Instituto de Genética Médica y Molecular (INGEMM)
Hospital Universitario La Paz
Paseo de La Castellana, 261
NOTE: The procedure and cost of shipping is to be covered by the applicant, and thus are not covered by the Dravet Syndrome Foundation Spain. We will not accept any sample requiring any type of payment.
How we can offer this test at no cost
We have been offering a free genetic test for Dravet syndrome since 2011, first as a Sanger and MLPA test and now as a large NGS panel. This has been possible thanks to the support of the INGEMM/Hospital La Paz, BBK, Microsoft, and multiple donors. If we help diagnose your child or you simply want to support these efforts, please consider paying it forward and helping us keep offering this test for the years to come by making some donation to the Dravet Syndrome Foundation Spain. Information on how to support us is available in this website.
We realize the 425 gene panel has the power to detect many forms of epilepsy that not necessarily qualify as Dravet-like for this program. If you are a patient organization of another genetic epilepsy syndrome and want to learn how to offer a test through the INGEMM contact us as email@example.com.
List of genes included in the current panel (v5.0, as of January 2016)
AARS, ABAT, ABCB1, ABCC2, ABCC8, ABCG2, ACMSD, ACOX1, ACY1, ADAM23, ADAR, ADGRV1, ADRA2B, ADSL, AKT3, ALDH4A1, ALDH5A1, ALDH7A1, ALG11, ALG13, AMT, ANKK1, ANO3, AP4E1, ARHGEF2, ARHGEF9, ARSA, ARX, ASAH1, ASL, ASPM, ASS1, ATN1, ATP1A2, ATP1A3, ATP6AP2, ATP7A, ATP7B, AUH, BCKDK, BCS1L, BRAF, BRAT1, BRD2, BRWD3, BTD, C10orf2, C12orf57, CACNA1A, CACNA1C, CACNA1H, CACNA2D1, CACNA2D2, CACNB4, CAMKMT, CASK, CASR, CBL, CD46, CDKL5, CELSR3, CERS1, CERS2, CHD2, CHRFAM7A, CHRNA1, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN2, CLCN4, CLCN6, CLN3, CLN5, CLN6, CLN8, CNR1, CNR2, CNRIP1, CNTN2, CNTNAP2, COA5, COL6A2, COX15, COX6B1, CPA6, CPS1, CPT2, CRH, CREBBP, CSTB, CTSA, CTSD, CYBA, CYP1A1, CYP1A2, CYP1B1, CYP2A6, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, D2HGDH, DAGLA, DCX, DEAF1, DEPDC5, DGKD, DDHD2, DDX3X, DLD, DNAJC6, DNASE1, DNM1, DOCK7, DOLK, DRD2, DYRK1A , EEF1A2, EFHC1, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP4, EPHX1, EPM2A, FAAH, FANCL, FARS2, FASN, FASTKD2, FH, FLNA, FOLR1, FOXG1, FOXRED1, FRMD3, GABBR1, GABBR2, GABRA1, GABRB3, GABRD, GABRG2, GAMT, GBA, GCK, GCSH, GFAP, GLB1, GLDC, GLI3, GLRA1, GLRB, GLYCTK, GNAO1, GOSR2, GPHN, GPR18, GPR55, GPR56, GRIA3, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRN, GSR, GSTM1, GTPBP3, HAX1, HCCS, HCN1, HCN2, HCN3, HCN4, HEPACAM, HEXA, HEXB, HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1, HNF4A, HNRNPU, HSD17B10, HSD17B4, HSPA1L, HTR2B, ICAM1, IDS, IER3IP1, IFI44L, IFNG, IL27RA, INS, IQSEC2, JRK, KCNA1, KCNA2, KCNB1, KCNC1, KCND2, KCNH1, KCNH2, KCNH5, KCNJ10, KCNJ11, KCNJ2, KCNMA1, KCNQ1, KCNQ2, KCNQ3, KCNT1, KCNV2, KCTD7, L2HGDH, LEPR, LGI1, LGI2, LMNB2, MAGI2, MAPK10, MBD5, MC3R, MCCC2, ME2, MECP2, MED17, MEF2C, MFSD8, MGLL, MLC1, MMP1, MOCS1, MOCS2, MOCS3, MRGPRX1, MTHFR, MTOR, NAPB, NAPEPLD, NDN, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEU1, NHLRC1, NIPA2, NKX2-1, NOS2, NOX1, NOX4, NPAS3, NPC1, NR1I2, NR2F1, NRXN1, NSDHL, NUBPL, OCLN, OPHN1, OTC, OTX1, PAFAH1B1, PAH, PANK2, PAX6, PCDH19, PCDH7, PDHA1, PDYN, PEX5, PHF6, PIGA, PIGO, PIK3CA, PLA2G6, PLCB1, PLP1, PMM2, PNKP, PNPO, POLG, PPARG, PPM1B, PPT1, PREPL, PRICKLE1, PRICKLE2, PRKCZ, PROC, PRODH, PRRT2, PSAT1, PSEN1, PTEN, PTGS1, PTGS2, PURA, QARS, RBFOX1, RBFOX3, RELN, RHOA, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RTTN, RYR2, RYR3, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN3B, SCN4A, SCN4B, SCN5A, SCN7A, SCN8A, SCN9A, SDHA, SERPINI1, SETBP1, SETD2, SEZ6, SGCE, SLC12A2, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A3 , SLC25A12, SLC25A13, SLC25A20, SLC25A22, SLC2A1, SLC3A1, SLC35A2, SLC35A3, SLC6A1, SLC6A5, SLC6A8, SLC6A11, SLC9A6, SNAP25, SNIP1, SNRPN, SOD1, SOD2, SOX11, SPTAN1, SRP9, SRPX2, ST3GAL3, ST3GAL5, STK25, STRADA, STX1B, STXBP1, STYXL1, SUCO, SURF1, SYN1, SYNGAP1, SZT2, TACO1, TBC1D24, TBX1, TCF4, TNK2, TOR1A, TP63, TPP1, TRAP1, TRAPPC10, TREX1, TRPM8, TRPM6, TRPV1, TRPV2, TSC1, TSC2, TUBA1A, TUBB2B, UBE3A, UGT1A3, UGT1A4, UGT1A6, UGT2B7, UPB1, USP9X, VRK2, WDR62, WWOX, YWHAG, ZEB2.