DNA検査サービス及び各種分析調査サービス

米国ジェネレックス・コーポレーションは1987年の創業よりDNAの可能性に着目し、検査及び鑑定の分野にて数々の功績をあげて参りました。創設者であるハワード・C・コールマン(Genelex Corp.CEO)は刑事・民事の事案で究極の法廷証拠として用いるDNAフィンガープリント判定基盤である電気泳動判別法の特許を有し、鑑定顧問として米国内のみならず中東諸国を含む海外各国のラボラトリーとリンケージし活躍しております。

それらの経験を活かし臨床分野へヒトゲノムの解明後は、臨床分野、薬理経済分野で実利的な検査パネルをいち早くリリースし社会に貢献しており、米国での経験則とともにニーズにマッチした事業展開を行っております。

お問い合わせ:info@genelex.jp

 

- 希少遺伝性疾患検査パネルリスト -

 

 

<新規検査項目>

遺伝性ジストニア

ジストニアという病気は、筋肉の緊張の異常によって様々な不随意運動や肢位、姿勢の異常が生じる状態をいいます。ジストニアには、全身の筋肉が異常に動いてしまう全身性ジストニアと、局所のみの筋緊張の異常による局所ジストニアに大別されます。症状は筋肉の異常収縮によるものですが、筋緊張を調節している大脳基底核という部分の働きの異常によっておこると考えられています。原因のわからないものを本態性ジストニア、脳卒中や脳炎などの後遺症として起こるものを二次性ジストニアと呼びます。本態性ジストニアの中にはDYTという遺伝子の異常による遺伝性ジストニアというものがあり、15の型が知られています。


Gene Condition
ACTB Dystonia, juvenile-onset; Baraitser-Winter syndrome 1
ADCY5 Dyskinesia, familial, with facial myokymia
ANO3 Dystonia 24
ARSA Metachromatic leukodystrophy
ATM Ataxia-telangiectasia
ATP1A3 Dystonia-12; Alternating hemiplegia of childhood 2; CAPOS syndrome
ATP7B Wilson disease
CACNA1B Dystonia 23
COL6A3 Dystonia 27; Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1
GCDH Glutaricaciduria, type I
GCH1 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia;
Hyperphenylalaninemia, BH4-deficient, B
GNAL Dystonia 25
GNAO1 Neurodevelopmental disorder with involuntary movements;
Epileptic encephalopathy, early infantile, 17
HPCA Dystonia 2, torsion, autosomal recessive
KCNMA1 Cerebellar atrophy, developmental delay, and seizures;
Paroxysmal nonkinesigenic dyskinesia, 3,
with or without generalized epilepsy
KCTD17 Dystonia 26, myoclonic
KMT2B Dystonia 28, childhood-onset
MECR Dystonia, childhood-onset,
with optic atrophy and basal ganglia abnormalities
PANK2 HARP syndrome; Neurodegeneration with brain iron accumulation 1
PLA2G6 Infantile neuroaxonal dystrophy 1;
Neurodegeneration with brain iron accumulation 2B;
Parkinson disease 14, autosomal recessive
PNKD Paroxysmal nonkinesigenic dyskinesia 1
PRKN Parkinson disease, juvenile, type 2
PRKRA Dystonia 16
PRRT2 Episodic kinesigenic dyskinesia 1;
Convulsions, familial infantile, with paroxysmal choreoathetosis;
Seizures, benign familial infantile, 2
RELN Lissencephaly 2 (Norman-Roberts type); Epilepsy, familial temporal lobe, 7
SGCE Dystonia-11, myoclonic
SLC2A1 Dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe;
GLUT1 deficiency syndrome 2, childhood onset;
Stomatin-deficient cryohydrocytosis with neurologic defects;
Epilepsy, idiopathic generalized, susceptibility to, 12
SLC6A3 Parkinsonism-dystonia, infantile
SLC25A1 Combined D-2- and L-2-hydroxyglutaric aciduria
SLC30A10 Hypermanganesemia with dystonia 1
SLC39A14 Hypermanganesemia with dystonia 2
SPR Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
TAF1 Dystonia-Parkinsonism, X-linked;
Mental retardation, X-linked, syndromic 33
TBCE Encephalopathy, progressive,
with amyotrophy and optic atrophy;
Hypoparathyroidism-retardation-dysmorphism syndrome;
Kenny-Caffey syndrome, type 1
TH Segawa syndrome, recessive
THAP1 Dystonia 6, torsion
TIMM8A Mohr-Tranebjaerg syndrome
TOR1A Dystonia-1, torsion
TUBB4A Dystonia 4, torsion, autosomal dominant;
Leukodystrophy, hypomyelinating, 6

TAT:

8-9 weeks


Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

 

筋萎縮性側索硬化症(ALS)

Gene Condition
ALS2 Amyotrophic lateral sclerosis 2, juvenile;
Primary lateral sclerosis, juvenile;
Spastic paralysis, infantile onset ascending
ANG Amyotrophic lateral sclerosis 9
CHCHD10 Frontotemporal dementia and/or amyotrophic
lateral sclerosis 2; Myopathy, isolated mitochondrial, autosomal dominant;
Spinal muscular atrophy, Jokela type
CHMP2B Amyotrophic lateral sclerosis 17;
Dementia, familial, nonspecific
ERBB4 Amyotrophic lateral sclerosis 19
FIG4 Amyotrophic lateral sclerosis 11;
Charcot-Marie-Tooth disease, type 4J; Yunis-Varon syndrome
FUS Amyotrophic lateral sclerosis 6,
with or without frontotemporal dementia; Essential tremor, hereditary, 4
MATR3 Amyotrophic lateral sclerosis 21
OPTN Amyotrophic lateral sclerosis 12
PFN1 Amyotrophic lateral sclerosis 18
SETX Amyotrophic lateral sclerosis 4, juvenile;
Spinocerebellar ataxia, autosomal recessive 1
SIGMAR1 Amyotrophic lateral sclerosis 16, juvenile;
Spinal muscular atrophy, distal, autosomal recessive, 2
SOD1 Amyotrophic lateral sclerosis 1
SPART Troyer syndrome
SPG11 Amyotrophic lateral sclerosis 5, juvenile;
Charcot-Marie-Tooth disease, axonal, type 2X;
Spastic paraplegia 11, autosomal recessive
SQSTM1 Frontotemporal dementia and/or
amyotrophic lateral sclerosis 3;
Myopathy, distal, with rimmed vacuoles;
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset;
Paget disease of bone 3
TARDBP Amyotrophic lateral sclerosis 10,
with or without FTD; Frontotemporal lobar degeneration, TARDBP-related
TBK1 Frontotemporal dementia and/or
amyotrophic lateral sclerosis 4;
TUBA4A Amyotrophic lateral sclerosis 22
with or without frontotemporal dementia
UBQLN2 Amyotrophic lateral sclerosis 15,
with or without frontotemporal dementia
VAPB Amyotrophic lateral sclerosis 8;
Spinal muscular atrophy, late-onset, Finkel type
VCP Amyotrophic lateral sclerosis 14,
with or without frontotemporal dementia;
Charcot-Marie-Tooth disease, type 2Y;
Inclusion body myopathy with early-onset Paget disease and
frontotemporal dementia 1

TAT:

6-7 weeks


Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

 

皮膚弛緩症

Gene Condition
ALDH18A1 Cutis laxa, autosomal dominant 3;
Cutis laxa, autosomal recessive, type IIIA;
Spastic paraplegia 9A, autosomal dominant;
Spastic paraplegia 9B, autosomal recessive
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA;
Wrinkly skin syndrome
ATP7A Menkes disease; Occipital horn syndrome;
Spinal muscular atrophy, distal, X-linked 3
EFEMP2 Cutis laxa, autosomal recessive, type IB
ELN Cutis laxa, autosomal dominant;
Supravalvar aortic stenosis
FBLN5 Cutis laxa, autosomal dominant 2;
Cutis laxa, autosomal recessive, type IA;
Neuropathy, hereditary, with or without age-related macular degeneration
GORAB Geroderma osteodysplasticum
LTBP4 Cutis laxa, autosomal recessive, type IC
PYCR1 Cutis laxa, autosomal recessive, type IIB;
Cutis laxa, autosomal recessive, type IIIB
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis

TAT:

5-6 weeks


Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

 

白内障遺伝検査

Gene Condition
AGK Cataract and cardiomyopathy;
Cataract, autosomal recessive congenital 5
BCOR Microphthalmia, syndromic 2
BEST1 Bestrophinopathy, autosomal recessive; Macular dystrophy, vitelliform, 2;
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma;
Retinitis pigmentosa-50
BFSP1 Cataract 33, multiple types
BFSP2 Cataract 12, multiple types
CHMP4B Cataract, posterior polar, 3
CRYAA Cataract, autosomal dominant
CRYAB Cataract 16, multiple types
CRYBA1 Cataract, congenital zonular, with sutural opacities
CRYBA4 Cataract 23, multiple types
CRYBB1 Cataract, congenital nuclear, autosomal recessive 3
CRYBB2 Cataract 3, multiple types
CRYGA Congenital cataract
CRYGB Cataract 39, multiple types
CRYGB Cataract 39, multiple types
CRYGC Cataract, coppock-like
CRYGD Cataract 4
CRYGS Cataract 20, multiple types
CTDP1 Congenital Cataracts, Facial Dysmorphism, and Neuropathy
EPHA2 Cataract 6, multiple types
EYA1 Anterior segment anomalies with or without cataract;
Branchiootorenal syndrome 1, with or without cataracts
FBN1 Ectopia lentis, familial; Weill-Marchesani syndrome 2, dominant
FTL Hyperferritinemia cataract syndrome;
L-ferritin deficiency, dominant and recessive
FYCO1 Cataract, autosomal recessive congenital 2
GALK1 Galactokinase deficiency with cataracts
GCNT2 Cataract 13 with adult i phenotype
GJA1 Oculodentodigital dysplasia;
Oculodentodigital dysplasia, autosomal recessive
GJA3 Zonular pulverulent cataract 3
GJA8 Cataract 1
GUCY2D Choroidal dystrophy, central areolar 1; Cone-rod dystrophy 6;
Leber congenital amaurosis 1; Night blindness, congenital stationary, type 1I
HSF4 Lamellar cataract
LEMD2 Cataract 46, juvenile-onset
LIM2 Cataract 19, multiple types
LONP1 CODAS syndrome
LSS Cataract 44
MAF Cataract 21, multiple types
MIP Cataract 15, multiple types
NHS Cataract 40, X-linked; Nance-Horan syndrome
NR2E3 Enhanced S-cone syndrome; Retinitis pigmentosa 37
P3H2 Myopia, high, with cataract and vitreoretinal degeneration
PAX6 Aniridia;
Anterior segment dysgenesis 5, multiple subtypes;
Cataract with late-onset corneal dystrophy; Foveal hypoplasia 1;
Optic nerve hypoplasia; Keratitis; Coloboma, ocular;
Coloboma of optic nerve
PITX3 Anterior segment dysgenesis 1, multiple subtypes;
Cataract 11, multiple types
PXDN Anterior segment dysgenesis 7
SIPA1L3 Cataract 45
SIL1 Marinesco-Sjogren syndrome
SIX6 Cataract, microphthalmia and nystagmus;
Microphthalmia syndromic 3
SLC16A12 Cataract, juvenile, with microcornea and glucosuria
TDRD7 Cataract, autosomal recessive congenital 4
TRPM3 Retinal dystrophy and iris coloboma with or without congenital cataract
UNC45B Cataract 43
VIM Cataract 30
VSX2 Microphthalmia with coloboma 3;
Microphthalmia, isolated 2
Glaucoma 1, open angle, G
Cataract 41

TAT:

8-9 weeks


Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

 

お問い合わせ:info@genelex.jp

ムコ多糖代謝異常症

遺伝子の障害から、生まれつきムコ多糖を分解する酵素を分泌できないために,役割を終え排出されるはずのムコ多糖を分解しきれず、体内(特に皮膚、骨、軟骨などの結合組織)にムコ多糖が溜まり、臓器や組織を圧迫していく進行性の病気です。

Gene Condition
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy)
GALNS Mucopolysaccharidosis IVA
GLB1 GM1-gangliosidosis, type I; GM1-gangliosidosis, type II;
GM1-gangliosidosis, type III;
Mucopolysaccharidosis type IVB (Morquio)
GNS Mucopolysaccharidosis type IIID
GUSB Mucopolysaccharidosis VII
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo C);
Retinitis pigmentosa 73
HYAL1 Mucopolysaccharidosis type IX
IDS Mucopolysaccharidosis II
IDUA Mucopolysaccharidosis Ih; Mucopolysaccharidosis Ih/s;
Mucopolysaccharidosis Is
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo B);
Charcot-Marie-Tooth disease, axonal, type 2V
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo A)

TAT:

6-7 weeks


Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

 

遺伝性不整脈疾患検査パネル

遺伝性不整脈疾患は、心筋の活動電位を形成するイオンチャネルとこれに関連する細胞膜蛋白、調節蛋白などをコードする遺伝子上の変異によりイオンチャネル機能障害をきたし、致死性不整脈を発症して心臓突然死の原因となる疾患です

Gene Condition
ABCC9 Atrial fibrillation, familial, 12; Dilated cardiomyopathy 1O
AKAP9 Long QT syndrome 11
ANK2 Cardiac arrhythmia, ankyrin B-related
CACNA1C Brugada syndrome 3
CACNB2 Brugada syndrome 4
CASQ2 Ventricular tachycardia, catecholaminergic polymorphic, 2
CAV3 Familial hypertrophic cardiomyopathy 1; Long QT syndrome 9
DES Dilated cardiomyopathy 1I
DSC2 Arrhythmogenic right ventricular cardiomyopathy, type 11
DSG2 Arrhythmogenic right ventricular cardiomyopathy, type 10;
Dilated cardiomyopathy 1BB
DSP Arrhythmogenic right ventricular cardiomyopathy, type 8;
Cardiomyopathy dilated with woolly hair and keratoderma;
Cardiomyopathy, dilated, with woolly hair, keratoderma,
and tooth agenesis
GJA5 Atrial fibrillation, familial, 11; Atrial standstill 1
GPD1L Brugada syndrome 2
HCN4 Brugada syndrome 8;
Sick sinus syndrome 2, autosomal dominant
JUP Arrhythmogenic right ventricular cardiomyopathy, type 12;
Naxos disease
KCNA5 Atrial fibrillation, familial, 7
KCND3 Brugada syndrome 9
KCNE1 Long QT syndrome 5;
Jervell and Lange-Nielsen syndrome 2
KCNE2 Atrial fibrillation, familial, 4;
Long QT syndrome 6
KCNE3 Brugada syndrome 6
KCNH2 Long QT syndrome 2; Short QT syndrome 1
KCNJ2 Andersen Tawil syndrome;
Atrial fibrillation, familial, 9; Short QT syndrome 3
KCNJ8 Cantu syndrome, KCNJ8 related
KCNQ1 Atrial fibrillation, familial, 3;
Jervell and Lange-Nielsen syndrome 1; Long QT syndrome 1;
Short QT syndrome 2
LMNA Muscular dystrophy, limb-girdle, type 1B;
Charcot-Marie-Tooth disease, type 2B1;
Cardiomyopathy, dilated, 1A;
Emery-Dreifuss muscular dystrophy 2, AD;
Emery-Dreifuss muscular dystrophy 3, AR;
Muscular dystrophy, congenital
NKX2-5 Atrial septal defect 7 with or without
atrioventricular conduction defect;
Conotruncal heart malformations; Hypoplastic left heart syndrome 2;
Ventricular septal defect 3
NPPA Atrial fibrillation, familial, 6; Atrial standstill 2
PKP2 Arrhythmogenic right ventricular cardiomyopathy, type 9
PLN Dilated cardiomyopathy 1P; Familial hypertrophic cardiomyopathy 18
RYR2 Arrhythmogenic right ventricular dysplasia, familial, 2;
Catecholaminergic polymorphic ventricular tachycardia type 1
SCN1B Atrial fibrillation, familial, 13; Brugada syndrome 5
SCN2B Atrial fibrillation, familial, 14
SCN3B Brugada syndrome 7
SCN4B Long QT syndrome 10
SCN5A Atrial fibrillation, familial, 10; Brugada syndrome 1;
Dilated cardiomyopathy 1E; Long QT syndrome 3;
Sick sinus syndrome 1, autosomal recessive;
Paroxysmal familial ventricular fibrillation 1
SNTA1 Long QT syndrome 12
TGFB3 Arrhythmogenic right ventricular dysplasia, familial 1
TMEM43 Arrhythmogenic right ventricular cardiomyopathy, type 5

TAT:

5-6 weeks


Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

 

男性因子不妊検査 (クラインフェルター症候群)

男性因子不妊検査は、精子形成不全と減数分裂停止に関連する遺伝子を含むターゲット変異解析をご提供いたします。 クラインフェルター症候群とY染色体微小欠失解析とを併せて検査します。

Gene Condition
AK7 Spermatogenic failure 27
ADGRG2 Congenital bilateral absence of vas deferens, X-linked
ARMC2 Spermatogenic failure 38
AURKC Spermatogenic failure 5
BRDT Spermatogenic failure 21
CATSPER1 Spermatogenic failure 7
CFAP43 Spermatogenic failure 19
CFAP44 Spermatogenic failure 20
CFAP69 Spermatogenic failure 24
CFTR Congenital bilateral absence of vas deferens; Cystic fibrosis
DNAH1 Spermatogenic failure 18
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus
DNAI1 Ciliary dyskinesia, primary, 1, with or without situs inversus
DPY19L2 Spermatogenic failure 9
FANCM Spermatogenic failure 28
FSHB Hypogonadotropic hypogonadism 24 without anosmia
FSIP2 Spermatogenic failure 34
GNRHR Hypogonadotropic hypogonadism 7 without anosmia
INSL3 Cryptorchidism
KLHL10 Spermatogenic failure 11
MEI1 Hydatidiform mole, recurrent, 3
MEIOB Spermatogenic failure 22
NANOS1 Spermatogenic failure 12
NR5A1 Spermatogenic failure 8; Adrenocortical insufficiency;
46XY sex reversal 3; 46, XX sex reversal 4
PLCZ1 Spermatogenic failure 17
PMFBP1 Spermatogenic failure 31
PPP2R3C Spermatogenic failure 36;
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
QRICH2 Spermatogenic failure 35
RNF212 Recombination rate QTL 1
SEPTIN12 Spermatogenic failure 10
SLC26A8 Spermatogenic failure 3
SOHLH1 Spermatogenic failure 32
SPATA16 Spermatogenic failure 6
SPINK2 Spermatogenic failure 29
SUN5 Spermatogenic failure 16
SYCE1 Spermatogenic failure 15
SYCP3 Spermatogenic failure 4
TAF4B Spermatogenic failure 13
TDRD9 Spermatogenic failure 30
TEX11 Spermatogenic failure, X-linked, 2
TEX14 Spermatogenic failure 23
TEX15 Spermatogenic failure 25
TSGA10 Spermatogenic failure 26
TTC21A Spermatogenic failure 37
USP9Y Spermatogenic failure, Y-linked, 2
WDR66 Spermatogenic failure 33
ZMYND15 Spermatogenic failure 14

TAT:

6-9 weeks


Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

 

 

先天性代謝異常

Congenital Disorders of Glycolysation

 生まれつき、特定の酵素が欠損していたり、代謝の働きが障害され、物質が体内に欠損したり、過剰に蓄積することで様々な症状を引き起こす遺伝性の疾患です。先天性代謝異常症の分類として、有機酸、アミノ酸、尿酸サイクル、糖質、脂肪酸、リソゾーム、リポタンパク、核酸、膜担送タンパクなどの代謝異常症が知られており、疾患の数としては数百種類が確認されています

(出典・国立精神・神経医療研究センター)

Gene Condition
ALG1 Congenital disorder of glycosylation, type Ik
ALG11 Congenital disorder of glycosylation, type Ip
ALG12 Congenital disorder of glycosylation, type Ig
ALG13 Congenital disorder of glycosylation, type Is
ALG2 Congenital disorder of glycosylation, type Ii;
Myasthenic syndrome, congenital, 14, with tubular aggregates
ALG3 Congenital disorder of glycosylation, type Id
ALG6 Congenital disorder of glycosylation, type Ic
ALG8 Congenital disorder of glycosylation, type Ih;
Polycystic liver disease 3 with or without kidney cysts
ALG9 Congenital disorder of glycosylation, type Il;
Gillessen-Kaesbach-Nishimura syndrome
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA;
Wrinkly skin syndrome
B4GALT1 Congenital disorder of glycosylation, type IId
B3GLCT Peters-plus syndrome
COG1 Congenital disorder of glycosylation, type IIg
COG2 Congenital disorder of glycosylation, type IIq
COG4 Congenital disorder of glycosylation, type IIj;
Saul-Wilson syndrome
COG5 Congenital disorder of glycosylation, type IIi
COG6 Congenital disorder of glycosylation, type IIl;
Shaheen syndrome
COG7 Congenital disorder of glycosylation, type IIe
COG8 Congenital disorder of glycosylation, type IIh
DDOST Congenital disorder of glycosylation, type Ir
DHDDS Congenital disorder of glycosylation, type 1bb;
Developmental delay and seizures with or without movement abnormalities
DOLK Congenital disorder of glycosylation, type Im
DPAGT1 Congenital disorder of glycosylation, type Ij;
Myasthenic syndrome, congenital, 13, with tubular aggregates
DPM1 Congenital disorder of glycosylation, type Ie
DPM2 Congenital disorder of glycosylation, type Iu
DPM3 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15
GMPPA Alacrima, achalasia, and mental retardation syndrome
GNE Nonaka myopathy; Sialuria
MAGT1 Congenital disorder of glycosylation, type Icc;
Immunodeficiency, X-linked, with magnesium defect,
Epstein-Barr virus infection and neoplasia
MAN1B1 Mental retardation, autosomal recessive 15
MGAT2 Congenital disorder of glycosylation, type IIa
MOGS Congenital disorder of glycosylation, type IIb
MPDU1 Congenital disorder of glycosylation, type If
MPI Congenital disorder of glycosylation, type Ib
NGLY1 Congenital disorder of deglycosylation
PGM1 Congenital disorder of glycosylation, type It
PGM3 Immunodeficiency 23
PMM2 Congenital disorder of glycosylation, type Ia
RFT1 Congenital disorder of glycosylation, type In
SEC23B Cowden syndrome 7; Dyserythropoietic anemia, congenital, type II
SLC35A1 Congenital disorder of glycosylation, type IIf
SLC35A2 Congenital disorder of glycosylation, type IIm
SLC35C1 Congenital disorder of glycosylation, type IIc
SRD5A3 Congenital disorder of glycosylation, type Iq; Kahrizi syndrome
SSR4 Congenital disorder of glycosylation, type Iy
STT3A Congenital disorder of glycosylation, type Iw
STT3B Congenital disorder of glycosylation, type Ix
TMEM165 Congenital disorder of glycosylation, type IIk
TUSC3 Mental retardation, autosomal recessive 7

TAT:

6-9 weeks


Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

 

 

原発性線毛機能不全症 (ジスキネジア)

Primary Ciliary Dyskinesia

原発性線毛機能不全症(primary ciliary dyskinesia:PCD)は線毛の構造・機能の異常により引き起こされる疾患であり,発症は2万人に1人程度とされる。症状は気道の線毛構造・機能異常によるクリアランス障害で繰り返し起こる上・下気道感染,時に合併する内臓逆位のほか,気道以外に存在する線毛の構造・機能異常による,水頭症,視野・嗅覚障害,不妊症などである。慢性的な気道感染により早期の呼吸機能の低下が起こり,緑膿菌感染の頻度も高く,症状のコントロールは難しい。

 

Gene Condition
ARMC4 Ciliary dyskinesia, primary, 23
CCDC103 Ciliary dyskinesia, primary, 17
CCDC114 Ciliary dyskinesia, primary, 20
CCDC151 Ciliary dyskinesia, primary, 30
CCDC39 Ciliary dyskinesia, primary, 14
CCDC40 Ciliary dyskinesia, primary, 15
CCDC65 Ciliary dyskinesia, primary, 27
CCNO Ciliary dyskinesia, primary, 29
CENPF Stromme syndrome
CFAP298 Ciliary dyskinesia, primary, 26
DNAAF1 Ciliary dyskinesia, primary, 13
DNAAF2 Ciliary dyskinesia, primary, 10
DNAAF3 Ciliary dyskinesia, primary, 2
DNAAF4 Ciliary dyskinesia, primary, 25
DNAAF5 Ciliary dyskinesia, primary, 18
DNAH1 Ciliary dyskinesia, primary, 37
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DNAH8 Ciliary dyskinesia
DNAI1