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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
code Disease Gene Comment
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
code Disease Gene Comment
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
code Disease Gene Comment
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
Chip (333 mutations)
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
code Disease Gene Comment
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
Chip (246 mutations)
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
REDUCTASE)Whole gene
D14DYSTONIA MUSCULORUM DEFORMANS(DYT1
DYSTONIA)TORSIN A
1exon(harbouring CAG
deletion and mutations)
DUCHENNE MUSCULAR DYSTROPHY (DMD)
DIAMOND-BLACKFAN ANEMIA
test
code Disease Gene Comment
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
code Disease Gene Comment
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
code Disease Gene Comment
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
code Disease Gene Comment
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
code Disease Gene Comment
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
code Disease Gene Comment
JJ01 KCNE1(MINK) Whole gene
J02 KCNQ1 Whole gene
test
code Disease Gene Comment
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
code Disease Gene Comment
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
code Disease Gene Comment
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
code Disease Gene Comment
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
code Disease Gene Comment
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
code Disease Gene Comment
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
code Disease Gene Comment
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
REDUCTASE)Whole gene
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
code Disease Gene Comment
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
Chip (594 mutations)
R03RETINITIS PIGMENTOSA,Autosomal dominant
panel
Ca4,FSCN2,
IMPDH1,NRL,PRPF3,PRPF31,
PRPF8,
RDS,RHO,ROM1,RP1,RP9,CR
X,TOPORS,PNR,KLHL7
Chip (383 mutations)
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
code Disease Gene Comment
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
S06 SCA2 ATX2 repeat
S07 SCA3 ATX3 repeat
S08 SCA6 CACNA1A repeat
S09 SCA7 ATX7 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
code Disease Gene Comment
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
code Disease Gene Comment
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
code Disease Gene Comment
UU01 UNVERRICH-LUNDBORG DISEASE CSTB Repeat
U02 USHER SYNDROME
CDH23,MYO7A,PCDH15,HARM
ONIN,SANS,
USHERIN,VLGR1,USH3A,WHIRL
IN
Chip(612 mutations)
test
code Disease Gene Comment
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
code Disease Gene Comment
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
code Disease Gene Comment
X
X01 X-LINKED LINKAGE ANALYSIS X-CHROMOSOMEfor every gene of interest :
3-5 Markers
test
code Disease Gene Comment
Y
Y01 Y CHROMOSOME MICRODELETIONS
AZFa,AZFb, AZFc (Including
DAZ) multiplex PCR