The Mendel Diagnostic Genetic Center tests no price.pdf · charcot-marie-tooth disease and deafness...

test

code Disease Gene Comment

AA01 ACHONDROPLASIA FGFR3

G1138A & G1138C

mutations

A19 ACUTE INTERMITTENT PORPHYRIA HMBS whole gene

A02 PANEL FOR SCA 1,2,3,6,7 repeat

A03 PANEL FOR SCA 8,10,12,17 repeat

A04 ADRENOLEUKODYSTROPHY, (X-LINKED ALD) ABCD1 whole gene

A05 ADRENOMYELONEUROPATHY ABCD1 whole gene

A06AGAMMAGLOBULINEMIA (X-LINKED), BRUTON

TYPEBTK whole gene

A07 ALBINISM (OCULOCUTANEOUS, TYPE 1), CA1 TYROSINASE (OCA1) whole gene

A08 ALBINISM, OCULAR, TYPE 1, OA1 OA1 whole gene

A09 ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS whole gene

A10 APP whole gene

A11 PSEN1 whole gene

A12 PSEN2 whole gene

A09 A467T , W748S mutations

A10 whole gene

A11 ALPHA THALASSEMIA HBA ARMS

A20 AMINOCYCLASE 1 DEFICIENCY ACY1 Whole gene

A12 ANDROGEN INSENSITIVITY SYNDROME AR Whole gene

A13 ANGELMAN SYNDROME UBE3AMLPA (methylation

sensitive)

A14 AUTSIM NLGN4X 9 exon

A15 AUTSIM SPECTRUM DISORDER, X-LINKED 1 NLGN3X 9 exon

A16ATRIAL SEPTAL DEFECT WITH AV CONDUCTION

DEFECTSNKX2E Whole gene

A17 AV BLOCK, IDIOPATHIC SECOND- DEGREE NKX2E Whole gene

A18AZOOSPERMIA-OLIGOSPERMIA,(MALE

INFERTILITY SYN.)

AZFa,AZFb, AZFc

(Including DAZ) multiplex PCR

The Mendel Diagnostic Genetic Center tests

ADCA (AUTOSOMAL DOMINANT CEREBELLAR

ATAXIA)

ALZHEIMER DISEASE, EARLY ONSET

ALPERS PROGRESSIVE INFANTILE

POLIODYSTROPHYPOLG

test


B

B01 BARDET BIEDL SYNDROME

BBS1,BBS2,BBS3,BBS4,BBS5

,BBS6,BBS7,BBS8,BBS9,BBS

10,BBS12,PHF6,ALMS1,GNA

S1

Chip (333 mutations)

B02 DMD (DYSTROPHIN) Del/Dup (MLPA)

B03 DMD (DYSTROPHIN) Multiplex PCR

B04BEST MACULAR DYSTROPHY,VITELLIFORM

MACULAR DYSTROPHYBESTROPHIN (VMD2) Chip (138 mutations)

B04 BETA THALASSEMIA HBB Whole gene

B06 GDPCH (GCH1) Whole gene

B07SPR (SPIAPTERIN

REDUCTASE)Whole gene

B086-PYROVYL

TETRAHYDROPTERIN

SYNTHASE (PTPS), PTS

Whole gene

B12 BIOBASE SANFILIPO SYNDROME A MPS3A 8exon-9reaction

B13 BIOBASE SANFILIPO SYNDROME B MPS3B 8exon-6reaction

B09 BIOTINIDASE DEFICIENCY BTD Whole gene

B10 BLADDER CANCER,TRANSITIONAL CELL KRAS Whole gene

B11 BREAST & OVARIAN CANCERBRCA1, BRCA2,CHEK2,

RAD51, NBN, CASP8Chip (88 mutations)

BH4 DEFICIENCY

BECKER MUSCULAR DYSTROPHY,(BMD)

test


CC36 CANAVAN DISIASE ASPA 6 exon

C01CADASIL (CEREBRAL AD ARTERIOPATHY WITH

SUBCORTICAL INFARCTS AND

LEUKOENCEPHALOPATHY)

NOTCH3exons3,4 harboring the

majority of mutations

C02 CARDIOFACIOCUTANEOUS SYN. KRAS Whole gene

C03 CATARACT, FROSTED or PUNCTATE CRYGD Whole gene

C37 CEROID-LIPOFUSCINOSIS,NEURONAL,1 PPT1 9exon

C38 CHANARIN-DORFMAN SYNDROME ABHD5 7exon

C04CHARCOT-MARIE-TOOTH DISEASE AND

DEAFNESSPMP22 MLPA

C05 CHARCOT-MARIE-TOOTH DISEASE 1D, (CMT1D) EGR2 Whole gene

C06 CHARCOT-MARIE-TOOTH DISEASE 2A, (CMT2A) MFN2 Whole gene

C07CHARCOT-MARIE-TOOTH DISEASE 2B1,

(CMT2B1)LMNA Whole gene

C08 CHARCOT-MARIE-TOOTH DISEASE 2I, (CMT2I) MPZ Whole gene

C09CHARCOT-MARIE-TOOTH DISEASE, AXONAL,TYPE 2J,

(CMT2J)MPZ Whole gene

C10 CHARCOT-MARIE-TOOTH DISEASE 2K, (CMT2K) GDAP1 Whole gene

C11

CHARCOT-MARIE-TOOTH DISEASE, AXONAL,

WITH VOCAL CORD PARESIS (AUTOSOMAL

RECESSIVE)

GDAP1 Whole gene

C12 CHARCOT-MARIE-TOOTH DISEASEE 1A, (CMT1A) PMP22 Duplication MLPA

C13 CHARCOT-MARIE-TOOTH DISEASE 1B, (CMT1B) MPZ Whole gene

C14 CHARCOT-MARIE-TOOTH DISEASE 1C, (CMT1C) LITAF Whole gene

C15CHARCOT-MARIE-TOOTH DISEASE

4A,(CMT4A)(AUTOSOMAL RECESSIVE)GDAP1 Whole gene

C16CHARCOT-MARIE-TOOTH DISEASE 4E,(CMT4E)

CONGENITAL HYPOMYELINATING NEUROPATHYEGR2 Whole gene

C17CHARCOT-MARIE-TOOTH DISEASE 4F,(CMT4F),

DEJERINE-SOTTAS NEUROPATHYEGR2, PMP22, MPZ Whole exons

C18CHARCOT-MARIE-TOOTH DISEASE, DOMINANT

INTERMEDIATE D, (CMTDID)MPZ Whole gene

C19CHARCOT-MARIE-TOOTH DISEASE,

INTERMEDIATE A, (CMTRIA) (AR)GDAP1 Whole gene

C20 CHARCOT-MARIE-TOOTH (X-LINKED), CMTX1 GJB1 (CONNEXIN 32) Whole gene

test


CC39 CHRONIC GRANULOMATOUS DISEASE NCF2 JUST EXON2

C21CHRONIC GRANULOMATOUS DISEASE, (AR)

CYTOCHROME-b-NEGATIVE FORMCYBA

Whole gene(6exon-

6reaction)

C22CHRONIC GRANULOMATOUS DISEASE, (X-

LINKED)CYBB Whole gene

C23CHRONIC MYELOMONOCYTIC LEUKEMIA,

(CMML)JAK2 V617F Mutation in JAK2

C24CHRONIC PROGRESSIVE EXTERNAL

OPHTHALMOPLEGIA, (CPEO)MITOCHONDRIAL Common deletions

C25CLEFT LIP WITH OR WITHOUT CLEFT PALATE,

NONSYNDROMIC,TYPE5MSX1 Whole gene

C26 COATS' RETINITIS NDP Whole gene

C27 CONE-ROD DYSTROPHY, STARGADT DISEASE ABCA4 Chip(558 MUTATIONS)

C28 CONGENITAL NEUTROPENIA ELA2 Whole gene

C29 CONGENITAL STATIONARY NIGHT BLINDNESSRHO,PDE6B,GNAT1,CABP4,

GRM6,SAG,NYX,CACNAF1,C

ACNA2D, GRK1, TRPM1

Chip (159mutations)

C30 COLLODION FETUS“LAMELLAR ICHTHYOSIS” TGM1 Whole gene

C31 CORNEAL DYSTROPHY

COL8A2,TGFB1,VSX1,CHST6,

KRT3,KRT12,GSN,TACSTD2,C

YP4V2,SOD1,TCF8,/ZEB1,SL

C4A11,UBIAD1


C32 COSTELLO SYN. HRAS Whole gene

C33CROUZON CRANIOSYNOSTOSIS WITH

ACANTHOSIS NIGRICANSFGFR3 p.Ala391Glu mutation

C34 CYCLIC NEUTROPENIA ELA2 Whole gene

C35 CYSTIC FIBROSIS CFTR Whole gene

test


D

D15

DEAFNESS,

AUTOSOMAL RECESSIVE, NON-SYNDROMICGJB2

(CONNEXIN 26) *

D16

DEAFNESS,

AUTOSOMAL RECESSIVE, NON-SYNDROMICGJB2

(CONNEXIN 30) *

D01 D2 HYDROXYGLUTARIC ACIDURIA D2HGD Whole gene(9exon)

D02 DEAFNESS, NONSYMDROMIC

GJB2, GJB6, GJB3, SLC26A4,

SLC26A5, MTNR1, MTTS1,

KCNQ4, TCM1, MYO15A1,

MUO7A


D03 DEAFNESS, MITOCHONDRIAL mtDNA 16srRNA and tRNAser

D04 DEJERINE SOTAS NEUROPATHY EGR2, PMP22, MPZ Whole exons

D05 DENTIN DYSPLASIA, type II DSPP Whole gene

D06 DENTINOGENESIS IMPERFECTA DSPP Whole gene

D07DIABETES INSIPIDOUS, NEPHROGENIC (AR) &

(AD)AQP2 Whole gene

D08DIABETES INSIPIDOUS, NEPHROGENIC (X-

LINKED)AVPR2

Whole gene(4exon-

4reaction)

D16 DIABETES,PERMANENT NEONATAL KCNJ11 2exon-2reaction

D09 RPS19 Whole gene

D18 RPS10 Whole gene(6 exon)

D17 DISTAL RENAL TUBULAR ACIDOSIS (dRTA) ATP6V1B1 Whole gene

D10DOPA RESPONSIVE DYSTONIA,(DYT5,SEGAWA

SYN.)GTPCH (GCH1) Whole gene

D11 DMD (DYSTROPHIN) Del/Dup (MLPA)

D12 DMD (DYSTROPHIN) Multiplex PCR

D13DYSTONIA, DOPA RESPONSIVE,DUE TO

SEPIAPTERIN REDUCTASE DEFICIENCY

SPR (SEPIAPTERIN


D14DYSTONIA MUSCULORUM DEFORMANS(DYT1

DYSTONIA)TORSIN A

1exon(harbouring CAG

deletion and mutations)

DUCHENNE MUSCULAR DYSTROPHY (DMD)

DIAMOND-BLACKFAN ANEMIA

test


E

E01 EMERY-DREYFUUS MUSCULAR DYSTROPHY (AD) LMNA Whole gene

E03 ECTODERMAL DYSPLASIA,ANHIDROTIC EDARADD 6exon-7reaction

E02EMERY-DREYFUUS MUSCULAR DYSTROPHY (X-

LINKED)EMD Whole gene

test


FF01 FABRY DISEASE GLA Whole gene

F02FACIOSCAPULOHUMERAL MUSCULAR

DYSTROPHY, FSHDFSHD Repeat

F03 FAMILIAL HYPERINSULINSM KCNJ11 Whole gene

F04 FAMILIAL HYPERPARATHYROIDISM CASR Whole gene

F05Exons 2, 3, 5, 10

(harbouring 98% of all

mutations)

F15 Whole gene

F06 FAMILIAL SPASTIC PARAPLEGIA,TYPE 1,(HSP1) SPG3A Whole gene

F07 FAMILIAL SPASTIC PARAPLEGIA,TYPE 2(HSP2) SPG4 Whole gene

F08 FMR0 Repeat

F09 FMR1metylation Sensitive PCR

for affected and carriers

F10 FMR1MLPA for affected and

carriers

F11 FRASER SYNDROME FREM2 Exon 6

F12 FRDA (FRATAXINE) repeat GAA

F13 FRDA (FRATAXINE) Whole gene

F14FUKUYAMA CONGENITAL MUSCULAR

DYSTROPHYFKTN Whole gene

FRAGILE X SYNDROME

FRIEDREICH ATAXIA

FAMILIAL MEDITERANEAN FEVER,(FMF) MEFV

test


G

G01 GALACTOSEMIA, TYPE1GALT (Galactose-1-

Phosphate

Uridyltransferase)

Whole gene(11exon)

G11 GANGLIOSIDOSIS,AB VARIENT GM2A 4exon

G02 GAUCHER DISEASE (TYPE 1,2&3) GBA Whole gene

G03 GLAUCOMA, PRIMARY INFANTILE ONSET CYP1B1 Whole gene

G04 GLAUCOMA, PRIMARY JUVENILE ONSET MYOC Whole gene(7exon)

G05 GLUTARIC ACIDURIA, TYPE 1 GCDH Whole gene

G12 GLYCOGEN STORAGE DISEASE 1A G6PC 5exon

G13 GLYCOGEN STORAGE DISEASE 4 GBE1 16exon

G09 GCSH Whole gene

G10 AMT Whole gene

G06 GM1 GANGLIOSIDOSIS GLB1 Whole gene

G07 GONADAL DYSGENESIS, XY FEMALE TYPE SRYPositive / Negative and

Whole

G08 GRICELLI SYN. RAB27A/ Myo5A/MLPH 5 exons 2 exons 1 exons

GLYCINE ENCEPHALOPATHY,

NONKETOTIC HYPERGLYCINEMIA

test


HH01 HEMOCHROMATOSIS, TYPE1 HFE Whole gene

H02 PRF1 Whole gene

H03 STX11 Whole gene

H04 HAEMOPHILIA A F8 (FACTOR8) Whole gene

H05 HAEMOPHILIA B F9 (FACTOR9) Selected exons/Whole gene

H06 Whole gene

H07 M712T Iranian mutation

H19 HMG-COA-LYAS deficiens HMGCL 9 exeon

H17 HOMOCYSTINURIA CBS Whole gene

H08 HUNTINGTON CHOREA HD (HUNTINGTIN) Repeat

H09 HUTCHINSON-GILFORD PROGERIA SYN. LMNA Whole gene

H20 HYALINOSIS , INFANTILE SYSTEMIC ANTXR2 17 exon

H10 HYPEREOSINOPHILIC SYN. JAK2 V617F Mutation in JAK2

H21 HYPERKALEMIC PERIODIC PARALYSIS SCN4A JUST EXON9-12-14-19-21-23

H11 HYPEROXALURIA, PRIMARY,TYPE1 AGXT Whole gene

H12 HYPERINSULINISM,FAMILIAL KCNJ11 Whole gene

H13 HYPERPARATHYRODISM, FAMILIAL CASR Whole gene

H14 HYPOCHONDROPLASIA FGFR3 Whole gene

H15 HYPODONTIA/OLIGODONTIA,TOOTH AGENESIS MSX1 Whole gene

H16 HYPOSPADIAS (X-LINKED) AR Whole gene

HEREDITARY INCLUSION BODY MYOPATHY 2,

(AR) (HIBM2)GNE

HEMOPHAGOCYTIC

LYMPHOHISTIOCYTOSIS,FAMILIAL

test


I

I01I-CELL DISEASE,

MUCOLIPIDOSIS, TYPE GNPTAB Whole gene

I02ICHTHYOSIFORM ERYTHRODERMA,

NONBULLOUS CONGENITALTGM1 Whole gene

I03 ICHTHYOSIS, LAMELLAR (COLLODION FETUS) TGM1 Whole gene

I05 Whole gene

I06 M712T Iranian mutation

I07 ISOVALERIC ACIDEMIA IVD Whole gene

test


JJ01 KCNE1(MINK) Whole gene

J02 KCNQ1 Whole gene

test


KK01 KEARNS-SAYRE SYN. MITOCHONDRIAL deletions

K02KENNEDY DISEASE (SPINOBULBAR MUSCULAR

ATROPHY)AR (ANDROGEN RECEPTOR) Repeat

K03 Whole gene

K04 Chip (118 mutations)

K05KOSTAMNN SYN. (SEVERE CONGENITAL

NEUTROPENIA)ELA2 Whole gene

JERVEL AND LANGE-NIELSEN SYNDROME

INCLUSION BODY MYOPATHY 2,(AR)(HIBM2) GNE

KJER TYPE OPTIC ATROPHY OPA1

test


L

L01LAFORA DISEASE (MYOCLONIC EPILEPSY OF

LAFORA)EPM2A Whole gene

L02 LEBER CONGENITAL AMAUROSIS

APL1,CRB1,CRX,GUCY2D,LR

AT,TULP1,MERTK,RPE65,RP

GRIP1,CEP290,RDH12,LCA5,

SPATA7

Chip (641mutations)

L03 LATTICE CORNEAL DYSTROPHY TGFBI Whole gene

L04 LEBER HEREDITARY OPTIC NEUROPATHY(LHON) MITOCHONDRIAL all 7 ND genes

L05 MITOCHONDRIAL 22 tRNA

L06 NUCLEAR DNA MUTATION

BCS1L, COX10, DLD,

NDUFA1, NDUFA2,

NDUFS1, NDUFS4, NDUFS7,

NDUFS8, NDUFV1, SCO1,

SCO2, SDHA, SURF1

L05 LESCH-NYHAN SYN. HPRT1 Whole gene

L06 LEUKEMIA, ACUTE MYELOGENOUS KRAS Whole gene

L07LIMB GIRDLE MUSCULAR DYSTROPHY

2I(LGMD2I)FKRP Whole gene

L08LIMB GIRDLE MUSCULAR DYSTROPHY 2F(LGMD

2F)SGCD,DELTA SARCOGLYCAN Whole gene

L09LIMB GIRDLE MUSCULAR DYSTROPHY 1B(LGMD

1B)LMNA Whole gene

L10LIMB GIRDLE MUSCULAR DYSTROPHY 2C(LGMD

2C), DUCHENNE-LIKE

SGCG(GAMMA

SARCOGYCAN)

Whole gene(8exon-

8reaction)

L11LIMB GIRDLE MUSCULAR DYSTROPHY 2D(LGMD

2D), DUCHENNE-LIK

SGCA(AILPHA

SARCOGLYCAN)

Whole gene(9exon-

9reaction)

L12LIMB GIRDLE MUSCULAR DYSTROPHY 2E(LGMD

2D),SGCB(BETA-SARCOGLYCAN) Whole gene

L13LIPODYSTROPHY,FAMILIAL

PARTIAL,TYPE2(DUNGAN TYPE)LMNA

Arg482,leading to several

amino acid substitution

L14LIPODYSTROPHY, CONGENITAL GENERALIZED,

TYPE1 BERARDINELLI-SEIPAGPAT2 Whole gene

L17 LMPHEDEMA, PRIMARY GJC2 Whole gene

L15 LUNG CANCER, SQUAMOUS CELL KRAS Whole gene

L16 LYSINURIC PROTEIN INTOLERANCE SLC7A7Whole gene(10exon-

11reaction)

LEIGH SYNDROME

test


MM01

MACULAR DEGENERATION,JUVENILE

(STARGARDT DISEASE)ABCA4 Chip (558 mutations)

M02MANDIBULOACRAL DYSPLASIA with TYPE A

LIPODYSTROPHYLMNA p.Arg527Hismutation

M33 MANNOSIDOSIS, ALPHA,CLASSE 2B,MEMBER1 MAN2B1 24exon-21reaction

M03 MAPLE SYRUP URINE DISEASE (MSUD) BCKDHA Whole gene

M04 MAPLE SYRUP URINE DISEASE (MSUD) BCKDHBWhole gene(10exon-

10reaction)

M05 MARINESCO-SJOGREN SYN. SIL1 Whole gene

M06 MASTOCYTOSIS, SYSTEMIC JAK2 V617F Mutation in JAK2

M07MEDIUM CHAIN ACYL-COA DEHYDROGENASE

DEFICIENCY, (MCAD)ACADM Whole gene

M08 MEDULLARY THYROID CARCINOMA RET exons 10,11,13,14,16

M09 MELAS SYN. MITOCHONDRIAL all 22 tRNA

M10 MERRF SYN. MITOCHONDRIAL all 22 tRNA

M11 METACHROMATIC LEUKODYSTROPHY ARSA Whole gene

M12METAPHYSEAL CHONDRODYSPLASIA,SCHMIDT

TYPECOL10A1 Whole gene

M13 METHYLMALONIC ACIDEMIA MUT Whole gene

M14 METHYLMALONIC ACIDEMIA, CblA TYPE MMAA Whole gene

M15 METHYLMALONIC ACIDEMIA, CblB TYPE MMAB Whole gene

M16METHYLMALONIC ACIDEMIA AND

HOMOCYSTINURIA, cblC typeMMACHC

Whole gene(4exon-

4reaction)

M17 MITOCHONDRIAL DISORDERS MITOCHONDRIAL Whole gene

M16 MNGIE SYNDROME TYMP Whole gene

M17 MTHFR MUTATION HOMOZYGOCITY MTHFR 1mutation

M33MUCOLIPIDOSIS, TYPE 2,

I-CELL DISEASE GNPTAB Whole gene

M18MUCOPOLYSACCHARIDOSIS, TYPE1(HURLER, HURLER-

SCHEIE & SCHEIE)IDUA Whole gene

M19 MUCOPOLYSACCHARIDOSIS, TYPE2 , (HUNTER SYN.) IDS Whole gene

M20 MUCOPOLYSACCHARIDOSIS, TYPE 3A SGSH Whole gene

M21 MUCOPOLYSACCHARIDOSIS, TYPE 3B NAGLU Whole gene

M22 MUCOPOLYSACCHARIDOSIS, TYPE 4A GALNS Whole gene(14exon)

test


MM34 MUCOPOLYSACCHARIDOSIS,IIIC MPS3C 18exon-14reaction

M23 MULTIPLE CARBOXYLASE DEFICIENCY BTD Whole gene

M24 MULTIPLE ENDOCRINE NEOPLASIA,TYPE1,(MEN1) MEN1 Whole gene

M25MULTIPLE ENDOCRINE NEOPLASIA,TYPE 2A,MEN2A,

(MEN2A)RET exons 10,11,13,14,16

M26 MULTIPLE ENDOCRINE NEOPLASIA,TYPE 2B,(MEN2B) RET exons 10,11,13,14,16

M27 JAK2 V617F Mutation in JAK2

M28 MPLExon10,including W515L

mutation

M29 MYELODYSPLASTIC SYN. JAK2 V617F Mutation in JAK2

M30 GCH1 Whole gene

M31 SGCE Whole gene

M32 MYOTONIC DYSTROPHY, TYPE1 DMPK repeat

MYOCLONIC DYSTONIA

MYELOFIBROSIS with MYELOID METAPLASIA

test


NN01 NAIL-PATELLA SYNDROME LMX1B Whole gene

N02 NARP SYNDROME MITOCHONDRIAL ATPase 6&8

N03 NEMALINE MYOPATHY ACTA1 Whole gene

N16NEURONAL CEROID LIPOFUSINOSIS,LATE

INFANTILETPP1 13exon

N17 NEURONAL CEROID LIPOFUSINOSIS,JUVENIL CLN3 15exon

N04 NEUTROCYTOPENIA, (X-LINKED) WAS (WASP) Whole gene

N05NEUTROPENIA, SEVERE

CONGENITAL,(KOSTMANN SYN.)ELA2 Whole gene

N06 NEUTROPHILIC LEUKEMIA JAK2 V617F Mutation in JAK2

N07 NESIDIOBLASTOSIS KCNJ11 Whole gene

N08 NIEMANN-PICK DISEASE, TYPE A or B SMPD1 Whole gene

N09 NIEMANN-PICK DISEASE, TYPE C1 NPC1 Whole gene

N10 NIGHT BLINDNESS, CONGENITAL STATIONARY NYX Whole gene

N11 NONAKA DISTAL MYOPATHY GNE Whole gene

N14 GCSH Whole gene

N15 AMT Whole gene

N12 NOONAN SYN. ,TYPE3 KRAS Whole gene

N13 NORRIE DISEASE, (X-LINKED) NDP Whole gene

NONKETOTIC HYPERGLYCINEMIA,

GLYCINE ENCEPHALOPATHY

test


OO01 OCULAR ALBINISM OA1 Whole gene

O02 OCULOCUTANEOUS ALBINISM TYPE1, (OCA1) OCA1(TYR ) Whole gene

O03 OCULOCUTANEOUS ALBINISM TYPE2, (OCA2) OCA2 Whole gene

O04 OCULODENTODIGITAL DYSPLASIA GJA1 Whole gene

O05 OPTIC ATROPHY 1, KJER TYPE OPA1 Whole gene

O09

OSTEOGENESIS IMPERFECTA,

TYPE IIB (2B),

(AR)CRTAP Whole gene

O08

OSTEOGENESIS IMPERFECTA, TYPE VI (6),

(AR) FKBP10 Whole gene(10exon)

O10

OSTEOGENESIS IMPERFECTA,

TYPE VII (7),

(ARCRTAP Whole gene

O06 OSTEOPETROSIS (AR) OSTM1 Whole gene

O07 OSTEOPETROSIS (AR) TCIRG1 Whole gene

test


PP00 PAIN INSENSINITY,CONGENITAL NTRK1 17 exon

P01 PANCREATIC CARCINOMA KRAS Whole gene

P02 PAPILLON-LEFEVRE SYNDROME CTSC Whole gene

P18PELIZAEUS-MERZBACHER-LIKE DISEASE

AUTOSOMAL RECESSIVEGJC2 Whole gene

P19 PELIZAEUS-MERZBACHER DISEASE,TYPE1 PLP1 7exon

P20 PELIZAEUS-MERZBACHER LIKE DISEASE GJC2 3exon

P21 PEUTZ-JEGHERS SYNDROME STK11 9 exon

P03 FGFR1 Whole gene

P04 FGFR2 Whole gene

P05 PHENYLKETONURIAPAH (Phenylalanine

Hydroxylase)Whole gene

P06 GTPCH(GCH1) Whole gene

P07SPR (SEPIAPTERIN


P086-PYRUVOYL-

TETRAHYDROPTERIN-

SYNTHASE (PTPS), PTS

Whole gene

P09 POLYCYSTIC KIDNEY DISEASE, AD PKHD1 Marker investigation

P10 POLYCYTEMIA VERA JAK2 V617F Mutation in JAK2

P16 PORPHYRIA, ACUTE INTERMITTENT HMBS Whole gene(14exon)

P11 PRADER-WILLI SYNDROME PWS MS-MLPA

P12 PRIMARY PULMONARY HYPERTENSION BMPR2 Whole gene

P21 PROPIONIC ACIDAEMIA PCCA 24exon

P13 PSEUDOACHONDROPLASIA COMP Whole gene

P14PSEUDOHERMAPHRODITISM, MALE,5-ALPHA

REDUCTASE DEFICIENCYSRD5A2 Whole gene

P15 PSEUDOHYPOPARATHYRODISM, TYPE1 GNAS Whole gene

P17 PYRUVATE KINASE DEFICIENCY OF RED CELLS PKLR Whole gene

PHENYLKETONURIA, ATYPICAL

SEVERE,MALIGNANT PKU

PFEIFFER SYNDROME,CRANIOSYNOSTOSIS

test


RR01

REFSUM DISEASE,PHYTANIC ACID OXIDASE

DEFICIENCYPEX7 Whole gene

R06 RENAL TUBULAR ACIDOSIS, DISTAL ATP6V1B1 Whole gene

R02RETINITIS PIGMENTOSA,autosomal recessive

panel

CERKL,CNGA1, CNGB1,

MERTK, PDE6A,

PDE6B,PNR,RDH12,RGR,RLB

P1,SAG,TULP1,CRB,RPE65,U

SH2A,USH3A, LRAT,

PROML1, RBP3


R03RETINITIS PIGMENTOSA,Autosomal dominant

panel

Ca4,FSCN2,

IMPDH1,NRL,PRPF3,PRPF31,

PRPF8,

RDS,RHO,ROM1,RP1,RP9,CR

X,TOPORS,PNR,KLHL7


R04 RETT SYN. MECP2 Whole gene

RETT SYN. CDKL5 22exon

RETT - LIKE SYNDROM -1 FOXG1 4 exon

R05 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA PEX7 Whole gene

test


SS01 SADDAN DYSPLASIA FGFR3 Whole gene

S02 SANDHOFF DISEASE HEX B Whole gene

S03 PANEL FOR: SCA1,2,3,6,7 Whole gene

S04 PANEL FOR: SCA8,10,12,17

repeat

S05 SCA1 ATX1 repeat



S08 SCA6 CACNA1A repeat


S10 SCA8 ATXN80S repeat

S11 SCA10 ATXN10 repeat

S12 SCA12 PPP2R2P repeat

S13 SCA17 TBP repeat

S14SEGAWA SYN. (DOPA RESPONSIVE DYSTONIA,

DYT5)GTPCH(GCH1) Whole gene

S15

SEVERE COMBINED IMMUNODEFICIENCY,AR, T

CELL NEGATIVE, B CELL NEGATIVE, NK CELL

POSITIVE (X-LINKED)

IL2RG Whole gene

S16 RAG1 Whole gene

S17 RAG2 Whole gene

S18

SEVERE COMBINED IMMUNODEFICIENCY,

(AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B

CELL- NEGATIVE, NK CELL-NEGATIVE, DUE TO

ADENOSINE DEAMINASE DEFICIENCY, SCID

ADA Whole gene

S19SEVERE MYOCLONIC EPILEPSY OF

INFANCY,DRAVET SYNDROMESCN1A Whole gene

S20SHORT-CHAIN ACYL-COA DEHYDROGENASE

DEFICIENCY, (SCAD DEFICIENCY)ACADS Whole gene

S21 GH1 Whole gene

S22 GHR Whole gene

S23 SICKLE CELL ANEMIA HBB Whole gene

SHORT STATURE,IDIOPATHIC

SEVERE COMBINED IMMUNODEFICIENCY,AR, T

CELL NEGATIVE, B CELL NEGATIVE, NK CELL

POSITIVE (AR)

SPINOCEREBELLAR ATAXIA (SCA)

test


SS24 SJOGREN-LARRSON ALDH3A2 Whole gene(10exeon)

S25 SMITH-LEMLI-OPITZ SYNDROME DHCR7 Whole gene(9exeon)

S26 SMN1 Del exons: 7 and 8

S27 SMN1Carrier testing by MLPA

method

S28SPINOBULBAR MUSCULAR ATROPHY,

(KENNEDY DISEASE)AR (ANDROGEN RECEPTOR) repeat

S29STARGARDT DISEASE, MACULAR

DEGENERATION, JUVENILEABCA4 Chip (519 mutations)

S30 STOMACH CANCER KRAS Whole gene

S31 SULFITE OXIDASE DEFICIENCY SUOXWhole gene(6reaction-

4exon)

SPINAL MUSCULAR ATROPHY, TYPE 1,2 & 3

(SMA)

test


TT01 TAY-SACHS DISEASE HEXA Whole gene

T02 TETRALOGY OF FALLOT NKX2E Whole gene

T03 THANATOPHORIC DYSPLASIA, TYPE 1 FGFR3 Whole gene

T04 THANATOPHORIC DYSPLASIA, TYPE 2 FGFR3 Whole gene

T05THIAMINE RESPONSIVE MEGALOBLASTIC

ANEMIASLC19A2 Whole gene

T06 THROMBASTHENIA OF GLANZMANN ITGB3 Whole gene

T07 MPLExon10,including W515L

mutation

T08 JAK2Exon 12,including V617F

mutation

T09 THROMBOCYTOPENIA, (X-LINKED) WAS(WASP) Whole gene

T10 THROMBOPHILIC PANEL

F5:H12244R, G1691A

F2:G20210A

MTHFR:C667,

A1298C,

F13:V34L,

PAI:4G/5G

EPrCR:A1,A3 ALLELES,

ApoB:R3500Q,

ApoE:E2,E3,E4 ALLELES,

FGB:4556>A,

HPA:L33P,

ACE:E ALLELE,

ENOS:C,T ALLELES,

LYMPHOTOXIN A:C804A

Reverse dot blotting

T11 THYROID CARCINOMA TSHR Whole gene

T12 MSX1 Whole gene

T13 PAX9 Whole gene

T14 TRUNCUS ARTERIOSUS COMMUNIS TBX1 Whole gene

T15 TUBEROUS SCLEROSIS TSC1 Whole gene

T16 TUBEROUS SCLEROSIS TSC2 Whole gene

T17 TYROSINEMIA, TYPE1 FAH Whole gene(11exon)

THROMBOCYTEMIA, ESSENTIAL

TOOTH AGENESIS, ANDONTIA, OLIGODONTIA,

HYPODONTIA

test


UU01 UNVERRICH-LUNDBORG DISEASE CSTB Repeat

U02 USHER SYNDROME

CDH23,MYO7A,PCDH15,HARM

ONIN,SANS,

USHERIN,VLGR1,USH3A,WHIRL

IN

Chip(612 mutations)

test


VV01 VARIOUS HEART MALFORMATION NKX2E Whole gene

V02 VELOCARDIOFACIAL SYN.(SHPRINTZEN SYN.) TBX1 Whole gene

V03VITTELIFORM MACULAR DYSTROPHY,BEST

MACULAR DYSTROPHYBESTROPHIN,(VMD2) Chip (138 mutations)

V04 VON HIPPEL LINDAU SYN. VHL Whole gene

test


W

W01WARTS, HYPOGAMMAGLOBULINEMIA,

INFECTIONS and MYELOKATHEXIS (WHIM SYN.)CXCR4 Whole gene

W02 WILMS TUMOR 1, (NEPHROBLASTOMA) WT1 Whole gene

W03 ATP7B Chip(104 mutations)

W04 ATP7B Whole gene

W05 WISKOTT-ALDRICH SYN. WAS (WASP) Whole gene

W06 WITKOP SYNDROME MSX1 Whole gene

W08 WOLMAN DISEASE LIPA Whole gene

W07 WOLFRAM SYN. (DIDMOAD) WFS1 Whole gene

WILSON DISEASE

test


X

X01 X-LINKED LINKAGE ANALYSIS X-CHROMOSOMEfor every gene of interest :

3-5 Markers

test


Y

Y01 Y CHROMOSOME MICRODELETIONS

AZFa,AZFb, AZFc (Including

DAZ) multiplex PCR

The Mendel Diagnostic Genetic Center tests no price.pdf · charcot-marie-tooth disease and deafness...

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