CENTER FOR PREDICTIVE AND PREVENTIVE GENETICS Director: Jorge Sequeiros, Clinical Geneticist www.cgpp.pt GENETIC TEST REQUEST FORM PHYSICIAN Name: ______Institution: ______Service/Departament: ______Phone: ______(Ext ______) Email: ______Fax: ______
Signature: ______Date: ____ /____ /______
(if you prefer, place the patient label here) PATIENT Name and surname: ______Sex: F M Local ID: ______Date of birth: ___/____/______Nationality/Ethnicity ______Adress: ______Postal code : ______- ______Filiation: ______
SAMPLE Date of sampling: ____/____/______Blood DNA Chorionic villi Amniotic fluid Other (specify): ______
CLINICAL AND FAMILIAL DATA Disease status (mandatory to process the request) Affected/Suspect Assintomatic at risk (AD) Carrier (AR) Spouse
Clinical data Familial data Clinical diagnosis (or familial disease): ______Age at onset: ____ years
Detailed symptoms: Family : ______
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______Please identify (with an arrow) (if you prefer, please attach letter) the index case to be tested and all relatives already tested
TYPE OF TEST (mandatory) Diagnostic Presymptomatic Carrier Pre-natal Index case Familial case In the case of a familial/presymptomatic/carrier/prenatal test, was the mutation identified at CGPP, IBMC? Name(s) of the tested relative(s): ______Uni(s)______If it has not been identified at CGPP, IBMC, please attach copy of the result of the affected relative.
I authorise the use of information for informatic purposes: Yes No
Reserved for the Lab RT39/0 17/05/2017 RT39/0 Rua Júlio Amaral de Carvalho,Rua do 45 Campo 4200-135 Alegre, Porto 823 PORTUGAL 4150-180 Porto Phone: Tel:+351 226 226 074 074 942 942 Fax: Fax: 226 +351 002 226 923 002 [email protected] 923 [email protected] www.cgpp.eu CENTER FOR PREDICTIVE AND PREVENTIVE GENETICS Director: Jorge Sequeiros, Clinical Geneticist
Name of patient:______GENETIC TEST (if you prefer, you can establish an order for the test by indicating the desired sequence) Ataxias Dystonia Neurofibromatoses Dominant ataxias: Early-onset primary dystonia, DYT1 (DYT1) Neurofibromatosis type 1 (NF1) Spinocerebellar ataxias (SCAs) (marked with *) Dopa-responsive dystonia, DYT5 (GCH1) NF1-like / Legius syndrome (SPRED1) Machado-Joseph disease/SCA3 (ATXN3)* Dystonia 6, DYT6 (THAP1) Neurofibromatosis type 2 (NF2) Dentatorubral-pallidoluysian atrophy, DRPLA, (ATN1)* Myoclonus-dystonia, DYT11 (SGCE) Schawnnomatosis (SMARCB1) SCA1 (ATXN1)* Myoclonus-dystonia, DYT11 (DRD2) Familial amyloid polyneuropathy, FAP SCA2 (ATXN2)* Dystonia-parkinsonism, DYT12 (ATP1A3) FAP ATTR V30M SCA6 (CACNA1A)* Dystonia 18, DYT18 (SLC2A1) TTR gene sequencing SCA7 (ATXN7)* Facioscapulohumeral musc. dystrophy, FSHD (D4Z4) Amyloidosis, finnish type GSN( ) SCA17 (TBP)* Myotonic dystrophy, type 2 (ZNF9) Amyloidosis, famil. visceral (systemic, non neurophatic) SCA5 (SPTBN2) Huntington disease, HD-like and benign chorea Apolipoprotein A1 (APOA1) SCA11 (TTBK2) Huntington disease HTT( ) Lyzosime (LYZ) SCA13 (KCNC3) Huntington-like, HDL: Fibrinogen (FGA) SCA14 (PRKCG) All HD-like (marked with *) Hereditary spastic paraplegia (HSP) SCA27 (FGF14) HDL-1 (PRNP)* HDL-2 (JPH3)* Dominant HSP: Recessive ataxias: DRPLA (ATN1)* SCA17 / HDL-4 (TBP)* All dominant HSP Friedreich ataxia, FRDA (FXN) Neuroferritinopathy FTL( )* SPG3A (ATL1) SPG4 (SPAST) Ataxia with vitamin E deficiency (TTPA) Benign hereditary chorea (NKX2-1/TITF1) SPG10 (KIF5A) SPG17 (BSCL2) Ataxia with oculomotor apraxia 1, AOA1 (APTX) Neuroacanthocytosis (VSP13A) SPG31 (REEP1) SPG42 (SLC33A1) Ataxia with oculomotor apraxia 2, AOA2 (SETX) Kennedy disease, SMBA (AR) Recessive HSP: Coenzyme Q10 deficiency (CABC1) Parkinson disease All recessive HSP Spastic ataxia of Charlevoix-Saguenay, ARSACS (SACS) Park 1/4 (SNCA) SPG5 (CYP7B1) SPG7 (SPG7) Ataxia-telangiectasia (ATM) Parkinson type 2, juvenile (PARK2) SPG11 (SPG11) SPG15 (SPG15) Abetalipoproteinemia, ABL (MTP) Park 5 (UCHL1) SPG20 (SPG20) SPG21 (SPG21) Episodic Ataxias, EA: Park 6 (PINK1) SPG48 (KIAA04151) EA-1 / EA with myokymia (KCNA1) Park 7 (DJ1) X-linked HSP: EA-2 (CACNA1A) Park 8 (LRRK2) SPG2 (PLP1) CADASIL (NOTCH3) Pelizaeus-Merzbacher disease (PLP1) Periodic paralyses Charcot-Marie Tooth (CMT) and HNPP Wilson disease, WD (ATP7B) Andersen-Tawil syndrome (KCNJ2) Hered. neurop. w/ liability to pressure palsies, HNPP: Familial hemiplegic migraine, FHM Hypokalemic periodic paralysis type 1 (CACNA1S) PMP22 deletion All FHM FHM 1(CACNA1A) Hypokalemic periodic paralysis type 1 (SCN4A) PMP22 sequencing FHM2 (ATP1A2) FHM3 (SCN1A) Hyperkalemic periodic paralysis (SCN4A) Charcot-Marie-Tooth type 1, CMT1: Epilepsy Nondystrophic myotonia All CMT1 (also includes CMTX1) Lafora disease (EPM2A e EPM2B) Myotonia congenita (AD-Thomsen; AR-Becker) (CLCN1) CMT1A (PMP22 duplication) Unverricht-Lundborg epilepsy (CSTB) Paramyotonia congenita (SCN4A) CMT1B (MPZ) Nocturnal frontal lobe epilepsy type 1 (CHRNA4) Sodium channel myotonia (SCN4A) CMT1C (LITAF) Nocturnal frontal lobe epilepsy type 3 (CHRNB2) Pseudohypoaldosteronism type 1 (SCNN1A, 1B, 1G) CMT1D (EGR2) Nocturnal frontal lobe epilepsy type 4 (CHRNA2) Liddle syndrome (SCNN1B, 1G) CMT1E (PMP22) Dravet syndrome (SCN1A) Glucose transporter type 1 deficiency syndrome CMT1F (NEFL) GEFS+ type 1 (SCN1B) type 1 and 2 (SLC2A1) Charcot-Marie-Tooth type 2, CMT2: GEFS+ type 2 (SCN1A) Rett syndrome Todos os CMT2 GEFS+ type 3 (GABRG2) Classic Rett (MECP2) CMT2A2 (MFN2) GEFS+ type 5 (GABRD) Atypical Rett (CDKL5) CMT2B (RAB7A) GEFS+ type 7 (SCN9A) Congenital variant (FOXG1) CMT2B1 (LMNA) Amyotrophic lateral sclerosis (ALS) CMT2E (NEFL) Dominat ALS: Hereditary hemochromatosis CMT2F (HSPB1) ALS 1 (SOD1) ALS4, juvenile (SETX) Hemochromatosis, HFE (C282Y;H63D;S65C) CMT2I/2J (MPZ) ALS6 (FUS/TLS) ALS8, SMA Finkel type (VAPB) Hemochromatosis, HFE sequencing CMT2K (GDAP1) ALS 9 (ANG) ALS 10 (TARDBP) Hemochromatosis (TFR2) CMT2L (HSPB8) Recessive ALS: Hemochromatosis (SLC40A1) CMT2N (AARS) ALS 2 (ALS2) Hemochromatosis, juvenil – hepcidin (HAMP) Charcot-Marie-Tooth type 4, CMT4: ALS linked to SPG11 gene (SPG11) Hemochromatosis, juvenil – hemojuvelin (HJV) All CMT4 ALS linked to SPG20 gene (SPG20) Iron-refractory deficiency anemia - IRIDA (TMPRSS6) CMT4A (GDAP1) Tuberous sclerosis (TSC1 and TSC2) Sideroblastic anemia ALAS2( ) CMT4D (NDRG1) Lissencephaly CMT4E (EGR2) Periventricular heterotopia (FLNA) CMT4F (PRX) Lissencephaly; Subcortical band heterotopia; DNA extraction and banking Charcot-Marie-Tooth X-linked, CMTX: Miller-Dieker S. (LIS1) Cell culture CMTX (GJB1) Lissencephaly; Subcortical band heterotopia (DCX) Dementia Lissencephaly (TUBA1A) Alzheimer, AD: Lissencephaly with ambiguous genitalia (ARX) Other test(s): ______AD3 (PSEN1) Lissencephaly, Norman-Roberts type (with cerebellar ______AD4 (PSEN2) hypoplasia) (RELN) ______AD1 (APP) Lissencephaly with cerebellar hypoplasia (VLDLR) AD2 (ApoE) Neurodegeneration with brain iron accumulation, NBIA Fronto-temporal dementia: NBIA1 - Infantile neuroaxonal dystrophy; FTD with parkinsonism, FTDP-17 (MAPT) Hallervorden-Spatz syndrome (PANK2) FTD - progranuline (PGRN) NBIA2A - Infantile neuroaxonal dystrophy; FTD - valosine (VCP) Seitelberger disease (PLA2G6) EDTA Prionic dementia PRNP( ) (Creutzfeldt-Jacob; NBIA2B - Atypical neuroaxonal dystrophy, Karak Gerstmann-Straussler; IFF) syndrome (PLA2G6) RSample: 10mL blood 17/05/2017 RT39/0 Lewy bodies dementia SNCA( and SNCB) NBIA3 - Neuroferritinopathy (FTL)
Rua Júlio Amaral deRua Carvalho, do Campo 45 4200-135Alegre, 823 Porto 4150-180 PORTUGAL Porto Phone: Tel: 226 +351 074 226942 074 Fax: 942 226 Fax: 002 +351923 226 [email protected] 002 923 [email protected] www.cgpp.eu