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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessDementias, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Dementias comprising 7 guideline-curated as well as altogether 209 genes according to the clinical signs

ID
DP0870
Number of genes
191 Accredited laboratory test
Examined sequence length
21,0 kb (Core-/Core-canditate-Genes)
496,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS + X

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
APP2313NM_000484.4AD
C9orf721446NM_018325.5AD
CHCHD10429NM_213720.3AD
CHMP2B642NM_014043.4AD
GRN1782NM_002087.4AD
MAPT1326NM_005910.6AD
NOTCH36966NM_000435.3AD
PRNP762NM_000311.5AD
PSEN11404NM_000021.4AD
PSEN21347NM_000447.3AD
SQSTM11323NM_003900.5AD
TARDBP1245NM_007375.4AD
AARS22958NM_020745.4AR
ABCA76441NM_019112.4Sus
ABCD12238NM_000033.4XLR
AFG3L22394NM_006796.3AD, AR
AHI13591NM_017651.5AR
ANO101983NM_018075.5AR
APTX1029NM_175073.3AR
ARL13B1287NM_182896.3AR
ARL3549NM_004311.4AR
ARMC93275NM_025139.6AR
ARSA1530NM_000487.6AR
ATCAY1116NM_033064.5AR
ATM9171NM_000051.4AR
ATN13573NM_001007026.2AD
ATP13A23543NM_022089.4AR
ATP1A33042NM_152296.5AD
ATP8A23567NM_016529.6AR
ATXN12448NM_000332.3AD
ATXN101236NM_001167621.2AD
ATXN23462NM_002973.4AD
ATXN31086NM_004993.6AD
ATXN72679NM_000333.4AD
B9D1615NM_015681.5AR
B9D2528NM_030578.4AR
BEAN1780NM_001178020.3AD
C19orf12459NM_001031726.3AR
CA8873NM_004056.6AR
CACNA1A6786NM_001127221.2AD
CACNA1G6945NM_018896.5AD
CAMTA15022NM_015215.4AD
CBY1510NM_001002880.2AR
CC2D2A4863NM_001080522.2AR
CCDC88C6087NM_001080414.4AD, AR
CEP1043059NM_014704.4AR
CEP1202961NM_153223.4AR
CEP2907440NM_025114.4AR
CEP411122NM_018718.3AR
CLN31317NM_001042432.2AR
CLN51077NM_006493.4AR
CLN6936NM_017882.3AR
CLN8861NM_018941.4AR
COASY1695NM_025233.7AR
COQ8A1944NM_020247.5AR
CP3198NM_000096.4AR
CPLANE19864NM_023073.4AR
CSF1R2919NM_005211.4AD
CSPP13666NM_024790.6AR
CST3441NM_000099.4AD
CTSA1497NM_000308.4AR
CTSD1239NM_001909.5AR
CTSF1455NM_003793.4AR
CWF19L11617NM_018294.6AR
CYP27A11596NM_000784.4AR
DAB11668NM_021080.5AD
DCAF171563NM_025000.4AR
DNAJC136732NM_015268.4AD
DNAJC5597NM_025219.3AD
DNMT14899NM_001130823.3AD
EEF22577NM_001961.4AD
EIF4G14821NM_198241.3AD, Sus
ELOVL4945NM_022726.4AD, AR
ELOVL5900NM_021814.5AD
EPM2A996NM_005670.4AR
FA2H1119NM_024306.5AR
FAM149B12067NM_173348.2AR
FAT213050NM_001447.3AD
FGF14744NM_004115.4AD
FLVCR11668NM_014053.4AR
FTL528NM_000146.4AD
FUS1581NM_004960.4AD
FXN633NM_000144.5AR
GALC2058NM_000153.4AR
GBA11611NM_001005741.3AD, AR
GBA22784NM_020944.3AR
GIGYF23900NM_001103146.3Sus
GRID23024NM_001510.4AR
GRM13585NM_001278064.2AD, AR
HEXA1590NM_000520.6AR
HEXB1671NM_000521.4AR
HNRNPA11119NM_031157.4AD
HNRNPA2B11026NM_002137.4AD
HTRA11443NM_002775.5AD, AR
HTT9429NM_002111.8AD
HYLS1900NM_145014.3AR
INPP5E1945NM_019892.6AR
INPP5K1119NM_016532.4AR
ITM2B801NM_021999.5AD
ITPR18088NM_002222.7AD, AR
JAM2983NM_001270407.2AR
JPH3561NM_001271604.4AD
KATNIP4857NM_015202.5AR
KCNC32274NM_004977.3AD
KCND31968NM_004980.5AD
KCTD7870NM_153033.5AR
KIAA05865005NM_001244189.2AR
KIAA07532989NM_014804.3AR
KIF74032NM_198525.3AR
LRRK27584NM_198578.4AD
MFSD81557NM_152778.3AR
MKS11680NM_017777.4AR
MME2253NM_007289.4AD, AR
MRE112127NM_005591.4AR
MYORG2146NM_020702.5AR
NHLRC11188NM_198586.3AR
NPC13837NM_000271.5AR
NPC2456NM_006432.5AR
NPHP12202NM_000272.5AR
OFD13039NM_003611.3XL
PANK21713NM_153638.4AR
PDE6D453NM_002601.4AR
PDGFB726NM_002608.4AD
PDGFRB3321NM_002609.4AD
PDYN765NM_024411.5AD
PEX101041NM_153818.2AR
PEX62943NM_000287.4AR, AD
PIBF12274NM_006346.4AR
PIK3R52643NM_001142633.3AR
PLA2G62421NM_003560.4AR
PLD31473NM_001031696.4AD
PMPCA1875NM_015160.3AR
PNKP1566NM_007254.4AR
POLG3720NM_002693.3AD, AR
PPP2R2B1350NM_181678.2AD
PPT1921NM_000310.4AR
PRKCG2094NM_002739.5AD
PSAP1575NM_002778.4AR
PUM13602NM_001020658.2AD
RNF1681716NM_152617.4AR
RPGRIP1L3948NM_015272.5AR
RUBCN2784NM_001145642.4AR
SCARB21437NM_005506.4AR
SCYL12642NM_001048218.2AR
SETX8034NM_015046.7AD
SIL11386NM_022464.5AR
SLC20A21959NM_001257180.2AD
SNCA423NM_000345.4AD
SNCB405NM_001001502.3AD
SPTBN27173NM_006946.4AR, AD
STUB1912NM_005861.4AR, AD
SUFU1455NM_016169.4AD, AR
SYNE126250NM_033071.4AD, AR
SYT141860NM_001146261.3AR
TBCE1584NM_003193.5AR
TBK12190NM_013254.4AD
TCTN11764NM_001082538.3AR
TCTN22094NM_024809.5AR
TCTN31824NM_015631.6AR
TDP11827NM_018319.4AR
TDP21089NM_016614.3AR
TGM62121NM_198994.3AD
TMEM106B832NM_001134232.2AD
TMEM138489NM_016464.5AR
TMEM216438NM_001173990.3AR
TMEM2311110NM_001077416.2AR
TMEM2371227NM_001044385.3AR
TMEM240522NM_001114748.2AD
TMEM672988NM_153704.6AR
TPP11692NM_000391.4AR
TREM2660NM_001271821.2AR
TRPC32766NM_001130698.2AD
TTBK23735NM_173500.4AD
TTPA837NM_000370.3AR
TUBB2B1338NM_178012.5AD
TWNK2055NM_021830.5AD, AR
TYROBP309NM_001173514.2AR
UBQLN21875NM_013444.4XL
VCP2421NM_007126.5AD
VLDLR2622NM_003383.5AR
VPS13A9408NM_033305.3AR
VPS13D13236NM_015378.4AR
VPS352391NM_018206.6AD
VPS412625NM_014396.4AR
WDR451086NM_007075.4XL
WDR731137NM_032856.5AR
WDR815826NM_001163809.2AR
WWOX1245NM_016373.4AR
XK1335NM_021083.4XL
XPR12106NM_001135669.2AD
ZNF4233675NM_015069.5AR

Informations about the disease

Clinical Comment

A quarter of all people aged >55 years have a family history of dementia. In most cases, this is due to genetically complex diseases in which many genetic variations interact with little effect to increase the risk of dementia. The lifetime risk of dementia in these families is approximately 20% (10% in the general population). Few families show autosomal dominant inheritance of early-onset dementia, often caused by mutations in one of the dementia genes with high penetrance. In addition to Alzheimer disease (AD), frontotemporal and other familial dementias can be defined by molecular genetics. AD is the most common form, with an estimated lifetime risk of nearly 20% in women and 10% in men. The genetic basis of AD is best understood in the early-onset forms, which account for <1% of cases and are inherited in an autosomal dominant manner. The genetic basis of late-onset AD is more complex and is not covered here. Frontotemporal dementia is the second most common cause of dementia, about 20-50% of cases are familial with mutations in three genes found in 60% of familial cases, of which C9orf72 mutations are the most common (25%; <5% of mutations occur in other genes). Virtually all monogenic forms of dementia are inherited in an autosomal dominant manner. DNA diagnostic yields for monogenic dementias with high familiality reach 30%. The clinical diagnosis can by no means be ruled out by a negative molecular genetic result.

https://www.ncbi.nlm.nih.gov/books/NBK1476/

https://www.ncbi.nlm.nih.gov/books/NBK304142/

https://www.ncbi.nlm.nih.gov/books/NBK1371/

https://www.ncbi.nlm.nih.gov/books/NBK1224/

https://www.ncbi.nlm.nih.gov/books/NBK1450/

https://www.ncbi.nlm.nih.gov/books/NBK1197/

https://www.ncbi.nlm.nih.gov/books/NBK1438/

https://www.ncbi.nlm.nih.gov/books/NBK1491/

https://www.ncbi.nlm.nih.gov/books/NBK84112/

 

Synonyms
  • Alias: Alzheimer disease
  • Alias: Frontotemporale Demenz
  • Alias: Parkinson-Demenz
  • Alias: Pick-Demenz
  • Alias: Vaskuläre Demenz
  • Allelic: Acne inversa, familial, 3 (PSEN1)
  • Allelic: Al-Gazali-Bakalinova syndrome (KIF7)
  • Allelic: Alternating hemiplegia of childhood 2 (ATP1A3)
  • Allelic: Alzheimer disease, type 3, with spastic paraparesis + apraxia (PSEN1)
  • Allelic: Alzheimer disease, type 3, with spastic paraparesis + unusual plaques (PSEN1)
  • Allelic: Amyotrophic lateral sclerosis 17 (CHMP2B)
  • Allelic: Amyotrophic lateral sclerosis 20 (HNRNPA1)
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2)
  • Allelic: Aphasia, primary progressive (GRN)
  • Allelic: Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
  • Allelic: Basal cell nevus syndrome (SUFU)
  • Allelic: Breast cancer, susceptibility to (ATM)
  • Allelic: Brugada syndrome 9 (KCND3)
  • Allelic: Cardiomyopathy, dilated, 1U (PSEN1)
  • Allelic: Cardiomyopathy, dilated, 1V (PSEN2)
  • Allelic: Ceroid lipofuscinosis, neuronal, 11(GRN)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2T (MME)
  • Allelic: Charcot-Marie-Tooth disease, type 2B2 (PNKP)
  • Allelic: Charcot-Marie-Tooth disease, type 2Y (VCP)
  • Allelic: Dementia, frontotemporal (PSEN1)
  • Allelic: Dermatofibrosarcoma protuberans (PDGFB)
  • Allelic: Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
  • Allelic: Encephalopathy, acute, infection-induced, herpes-specific, susceptibility to, 8 (TBK1)
  • Allelic: Episodic ataxia, type 2 (CACNA1A)
  • Allelic: Essential tremor, hereditary, 4 (FUS)
  • Allelic: Gaucher disease, perinatal lethal (GBA)
  • Allelic: Gaucher disease, type I + II (GBA)
  • Allelic: Gaucher disease, type IIIC (GBA)
  • Allelic: Heimler syndrome 2 (PEX6)
  • Allelic: Hydrolethalus syndrome 2 (KIF7)
  • Allelic: Hyperferritinemia-cataract syndrome (FTL)
  • Allelic: Inclusion body myopathy, early-onset Paget dis. +/- frontotemp. dement. 2 (HNRNPA2B1)
  • Allelic: Inclusion body myopathy, early-onset Paget dis. without frontotemporal demen. 3 (HNRNPA1)
  • Allelic: Inclusion body myopathy, early-onset Paget disease + frontotemporal dementia 1 (VCP)
  • Allelic: Insomnia, fatal familial (PRNP)
  • Allelic: Kuru, susceptibility to (PRNP)
  • Allelic: L-ferritin deficiency, AD + AR (FTL)
  • Allelic: Lateral meningocele syndrome (NOTCH3)
  • Allelic: Leber congenital amaurosis 10 (CEP290)
  • Allelic: Lopes-Maciel-Rodan syndrome (HTT)
  • Allelic: Macular degeneration, age-related, 11 (CST3)
  • Allelic: Macular degeneration, age-related, 7 (HTRA1)
  • Allelic: Macular degeneration, age-related, neovascular type (HTRA1)
  • Allelic: Macular dystrophy with central cone involvement (MFSD8)
  • Allelic: Meckel syndrome 1 (MKS1)
  • Allelic: Meckel syndrome 11 (TMEM231)
  • Allelic: Meckel syndrome 2 (TMEM216)
  • Allelic: Meckel syndrome 3 (TMEM67)
  • Allelic: Meckel syndrome 4 (CEP290)
  • Allelic: Meckel syndrome 5 (RPGRIP1L)
  • Allelic: Meckel syndrome 6 (CC2D2A)
  • Allelic: Meckel syndrome 8 (TCTN2)
  • Allelic: Meckel syndrome 9 (B9D1)
  • Allelic: Medulloblastoma, desmoplastic (SUFU)
  • Allelic: Meningioma, SIS-related (PDGFB)
  • Allelic: Meningioma, familial, susceptibility to (SUFU)
  • Allelic: Migraine, familial hemiplegic, 1 (CACNA1A)
  • Allelic: Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
  • Allelic: Myeloproliferative disorder with eosinophilia (PDGFRB)
  • Allelic: Myofibromatosis, infantile 2 (NOTCH3)
  • Allelic: Myofibromatosis, infantile, 1 (PDGFRB)
  • Allelic: Myopathy, distal, with rimmed vacuoles (SQSTM1)
  • Allelic: Myopathy, isolated mitochondrial, AD (CHCHD10)
  • Allelic: Nephronophthisis 1, juvenile (NPHP1)
  • Allelic: Nephronophthisis 11 (TMEM67)
  • Allelic: Neuropathy, hereditary sensory, type IE (DNMT1)
  • Allelic: Optic atrophy 12 (AFG3L2)
  • Allelic: Paget disease of bone 3 (SQSTM1)
  • Allelic: Parkinson disease 1 + 4 (SNCA)
  • Allelic: Parkinson disease, late-onset, susceptibility to (ATXN2)
  • Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
  • Allelic: Parkinson disease, susceptibility to (TBP)
  • Allelic: Perrault syndrome 5 (TWNK)
  • Allelic: Pick disease (MAPT, PSEN1)
  • Allelic: Premature aging syndrome, Penttinen type (PDGFRB)
  • Allelic: Progressive external ophthalmoplegia, AD 1 (POLG1)
  • Allelic: Progressive external ophthalmoplegia, AR 1 (POLG1)
  • Allelic: RHYNS syndrome (TMEM67)
  • Allelic: Retinal dystrophy with inner retinal dysfunction + ganglion cell abnormalities (ITM2B)
  • Allelic: Retinitis pigmentosa 23 (OFD1)
  • Allelic: Retinitis pigmentosa 83 (ARL3)
  • Allelic: Senior-Loken syndrome 6 (CEP290)
  • Allelic: Senior-Loken syndrome-1 (NPHP1)
  • Allelic: Short-rib thoracic dysplasia 13 with/-out polydactyly (CEP120)
  • Allelic: Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
  • Allelic: Short-rib thoracic dysplasia 21 without polydactyly (KIAA9753)
  • Allelic: Spastic paraplegia 43, AR (C19orf12)
  • Allelic: Spinal muscular atrophy, Jokela type (CHCHD10)
  • Allelic: Spinocerebellar ataxia 15 (ITPR1)
  • Allelic: Stargardt disease 3 (ELOVL4)
  • Allelic: Supranuclear palsy, progressive (MAPT)
  • Allelic: Supranuclear palsy, progressive atypical (MAPT)
  • Acrocallosal syndrome (KIF7)
  • Adrenoleukodystrophy (ABCD1)
  • Adrenomyeloneuropathy, adult (ABCD1)
  • Allelic: Ataxia-pancytopenia syndrome (SAMD9L)
  • Allelic: Deafness, AR 70, +/- adult-onset neurodegeneration (PNPT1)
  • Allelic: Monosomy 7 myelodysplasia + leukemia syndrome 1 (SAMD9L)
  • Allelic: Nephronophthisis 14 (ZNF423)
  • Alzheimer disease 3 (PSEN1)
  • Alzheimer disease 4 (PSEN2)
  • Alzheimer disease 9, susceptibility to (ABCA7)
  • Amyotrophic lateral sclerosis 10, with/-out FTD (TARDBP)
  • Amyotrophic lateral sclerosis 14, with/-out frontotemporal dementia (VCP)
  • Amyotrophic lateral sclerosis 15, with/-out frontotemporal dementia (UBQLN2)
  • Amyotrophic lateral sclerosis 4, juvenile (SETX)
  • Amyotrophic lateral sclerosis 6, with/-out frontotemporal dementia (FUS)
  • Ataxia with isolated vitamin E deficiency (TTPA)
  • Ataxia, cerebellar, Cayman type (ATCAY)
  • Ataxia, early-onset, with oculomotor apraxia + hypoalbuminemia (APTX)
  • Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
  • Ataxia-oculomotor apraxia 3 (PIK3R5)
  • Ataxia-oculomotor apraxia 4 (PNKP)
  • Ataxia-telangiectasia (ATM)
  • Ataxia-telangiectasia-like disorder 1 (MRE11)
  • Bardet-Biedl syndrome 13 (MKS1)
  • Bardet-Biedl syndrome 14 (CEP290)
  • Bardet-Biedl syndrome 14, modifier of (TMEM67)
  • Basal ganglia calcification, idiopathic, 1 (SLC20A2)
  • Basal ganglia calcification, idiopathic, 4 (PDGFRB)
  • Basal ganglia calcification, idiopathic, 5 (PDGFB)
  • Basal ganglia calcification, idiopathic, 6 (XPR1)
  • Basal ganglia calcification, idiopathic, 7, AR (MYORG)
  • Basal ganglia calcification, idiopathic, 8, AR (JAM2)
  • Brain abnormalities, neurodegeneration + dysosteosclerosis (CSF1R)
  • CAPOS syndrome (ATP1A3)
  • CARASIL syndrome (HTRA1)
  • COACH syndrome 1 (TMEM67)
  • COACH syndrome 2 (CC2D2A)
  • COACH syndrome 3 (RPGRIP1L)
  • Cerebellar ataxia (CP)
  • Cerebellar ataxia + mental retardation with/-out quadrupedal locomotion 3 (CA8)
  • Cerebellar ataxia, deafness, narcolepsy, AD (DNMT1)
  • Cerebellar ataxia, mental retardation + dysequilibrium syndrome 2 (WDR81)
  • Cerebellar ataxia, mental retardation + dysequilibrium syndrome 4 (ATP8A2)
  • Cerebellar ataxia, neuropathy + vestibular areflexia syndrome (RFC1)
  • Cerebellar ataxia, nonprogressive, with mental retardation (CAMTA1)
  • Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
  • Cerebral amyloid angiopathy (CST3)
  • Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants (APP)
  • Cerebral amyloid angiopathy, PRNP-related (PRNP)
  • Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
  • Cerebral arteriopathy, AD, with subcortical infarcts + leukoencephalopathy, type 2 (HTRA1)
  • Cerebrotendinous xanthomatosis (CYP27A1)
  • Ceroid lipofuscinosis, neuronal, 1 (PPT1)
  • Ceroid lipofuscinosis, neuronal, 10 (CTSD)
  • Ceroid lipofuscinosis, neuronal, 13 (Kufs type), AD (CTSF)
  • Ceroid lipofuscinosis, neuronal, 2 (TPP1)
  • Ceroid lipofuscinosis, neuronal, 3 (CLN3)
  • Ceroid lipofuscinosis, neuronal, 4, Parry type (DNAJC5)
  • Ceroid lipofuscinosis, neuronal, 4A, Kufs type, AR (CLN6)
  • Ceroid lipofuscinosis, neuronal, 4B, Kufs type, AD (DNAJC5)
  • Ceroid lipofuscinosis, neuronal, 5 (CLN5)
  • Ceroid lipofuscinosis, neuronal, 6 (CLN6)
  • Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
  • Ceroid lipofuscinosis, neuronal, 8 (CLN8)
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
  • Choreoacanthocytosis (VPS13A)
  • Coenzyme Q10 deficiency, primary, 4 (COQ8A)
  • Combined SAP deficiency (PSAP)
  • Combined oxidative phosphorylation deficiency 13 (PNPT1)
  • Combined oxidative phosphorylation deficiency 8 (AARS2)
  • Congenital hypotonia, epilepsy, developmental delay, digital anomalies (ATN1)
  • Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
  • Creutzfeldt-Jakob disease (PRNP)
  • Dementia, Lewy body (SNCA)
  • Dementia, Lewy body (SNCB)
  • Dementia, familial British (ITM2B)
  • Dementia, familial Danish (ITM2B)
  • Dementia, frontotemporal, with/-out parkinsonism (MAPT)
  • Dentatorubral-pallidoluysian atrophy (ATN1_CAG)
  • Developemental + epileptic encephalopathy 42 (CACNA1A)
  • Developmental + epileptic encephalopathy 28 (WWOX)
  • Dystonia-12 (ATP1A3)
  • Encephalopathy, progressive, with amyotrophy + optic atrophy (TBCE)
  • Epilepsy, progressive myoclonic 2A [Lafora] (EPM2A)
  • Epilepsy, progressive myoclonic 2B [Lafora] (NHLRC1)
  • Epilepsy, progressive myoclonic 3, with/-out intracellular inclusions (KCTD7)
  • Epilepsy, progressive myoclonic 4, with/-out renal failure (SCARB2)
  • Friedreich ataxia (FXN_GAA)
  • Friedreich ataxia with retained reflexes (FX_GAA)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9ORF72_GGGGCC)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (CHCHD10)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (SQSTM1)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (TBK1)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (VCP)
  • Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
  • Frontotemporal lobar degeneration, TARDBP-related (TARDBP)
  • GM2-gangliosidosis, several forms (HEXA)
  • Galactosialidosis (CTSA)
  • Galloway-Mowat syndrome 1 (WDR73)
  • Gaucher disease, atypical (PSAP)
  • Gaucher disease, type I, II, III, IIIC (GBA)
  • Gaucher disease, type III (GBA)
  • Gerstmann-Straussler disease (PRNP)
  • Gillespie syndrome (ITPR1)
  • HARP syndrome (PANK2)
  • Hemosiderosis, systemic, due to aceruloplasminemia (CP)
  • Hex A pseudodeficiency (HEXA)
  • Huntington disease (HTT_CAG)
  • Huntington disease-like 1 (PRNP)
  • Huntington disease-like 2 (JPH3_CTG)
  • Hydrocephalus, congenital, 1 (CCDC88C)
  • Hydrocephalus, congenital, 3, with brain anomalies (WDR81)
  • Hydrolethalus syndrome (HYLS1)
  • Hypoceruloplasminemia, hereditary (CP)
  • Hypoparathyroidism-retardation-dysmorphism syndrome (TBCE)
  • Ichthyosis, spastic quadriplegia + mental retardation (ELOVL4)
  • Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VCP)
  • Inclusion body myopathy with early-onset Paget disease +/- frontotemporal dementia 2 (HNRNPA2B1)
  • Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 (HNRNPA1)
  • Infantile neuroaxonal dystrophy 1 (PLA2G6)
  • Intellectual disability, cerebellar ataxia, molar tooth sign [panelapp] (CBY1)
  • Joubert syndrome 1 (INPP5E)
  • Joubert syndrome 10 (OFD1)
  • Joubert syndrome 12 (KIF7)
  • Joubert syndrome 13 (TCTN1)
  • Joubert syndrome 14 (TMEM237)
  • Joubert syndrome 15 (CEP41)
  • Joubert syndrome 16 (TMEM138)
  • Joubert syndrome 17 (CPLANE1)
  • Joubert syndrome 18 (TCTN3)
  • Joubert syndrome 19 (ZNF423)
  • Joubert syndrome 2 (TMEM216)
  • Joubert syndrome 20 (TMEM231)
  • Joubert syndrome 21 (CSPP1)
  • Joubert syndrome 22 (PDE6D)
  • Joubert syndrome 23 (KIAA0586)
  • Joubert syndrome 24 (TCTN2)
  • Joubert syndrome 25 (CEP104)
  • Joubert syndrome 26 (KATNIP syn. KIAA0556)
  • Joubert syndrome 27 (B9D1)
  • Joubert syndrome 28 (MKS1)
  • Joubert syndrome 3 (AHI1)
  • Joubert syndrome 30 (ARMC9)
  • Joubert syndrome 31 (CEP120)
  • Joubert syndrome 32 (SUFU)
  • Joubert syndrome 33 (PIBF1)
  • Joubert syndrome 34 (B9D2)
  • Joubert syndrome 35 (ARL3)
  • Joubert syndrome 36 (FAM149B1)
  • Joubert syndrome 37 (TOGARAM1)
  • Joubert syndrome 38 (KIAA0753)
  • Joubert syndrome 39 (TMEM218)
  • Joubert syndrome 4 (NPHP1)
  • Joubert syndrome 5 (CEP290)
  • Joubert syndrome 6 (TMEM67)
  • Joubert syndrome 7 (RPGRIP1L)
  • Joubert syndrome 8 (ARL13B)
  • Joubert syndrome 9 (CC2D2A)
  • Joubert syndrome [panelapp] (CBY1)
  • Kenny-Caffey syndrome, type 1 (TBCE)
  • Kosaki overgrowth syndrome (PDGFRB)
  • Krabbe disease (GALC)
  • Krabbe disease, atypical (PSAP)
  • Kufor-Rakeb syndrome (ATP13A2)
  • Leukodystrophy, hypomyelinating, 16 (TMEM106B)
  • Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
  • Leukoencephalopathy, progressive, with ovarian failure (AARS2)
  • Lewy body dementia, susceptibility to (GBA)
  • Machado-Joseph disease (ATXN3_CAG)
  • Marinesco-Sjogren syndrome (SIL1)
  • McLeod syndrome with/-out chronic granulomatous disease (XK)
  • Meckel syndrome 10 (B9D2)
  • Mental retardation, truncal obesity, retinal dystrophy + micropenis (INPP5E)
  • Metachromatic leukodystrophy (ARSA)
  • Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
  • Microcephaly, seizures + developmental delay (PNKP)
  • Mitochondrial DNA depletion syndrome 4A, Alpers type (POLG1)
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type (POLG1)
  • Mitochondrial DNA depletion syndrome 7, hepatocerebral type (TWNK)
  • Mitochondrial recessive ataxia syndrome, includes SANDO + SCAE (POLG1)
  • Muscular dystrophy, congenital, with cataracts + intellectual disability (INPP5K)
  • Neurodegeneration with ataxia, dystonia + gaze palsy; childhood-onset (SQSTM1)
  • Neurodegeneration with brain iron accumulation 1 (PANK2)
  • Neurodegeneration with brain iron accumulation 2B (PLA2G6)
  • Neurodegeneration with brain iron accumulation 3 (FTL)
  • Neurodegeneration with brain iron accumulation 4 (C19orf12)
  • Neurodegeneration with brain iron accumulation 5 (WDR45)
  • Neurodegeneration with brain iron accumulation 6 (COASY)
  • Neurodegenerative disorder, adult onset [panelapp] (DNAJC13)
  • Niemann-Pick disease, type C2 (NPC2)
  • Niemann-Pick disease, types C1 + D (NPS1)
  • Orofaciodigital syndrome I (OFD1)
  • Orofaciodigital syndrome IV (TCTN3)
  • Orofaciodigital syndrome VI (CPLANE1)
  • Orofaciodigital syndrome XV (KIAA9753)
  • Parkinson disease 1 (Gigyf2)
  • Parkinson disease 14, AR (PLA2G6)
  • Parkinson disease 17 (VPS35)
  • Parkinson disease 18 (EIF4G1)
  • Parkinson disease 24, AD, susceptibility to (PSAP)
  • Parkinson disease 8 (LRRK2)
  • Parkinson disease, late-onset, susceptibility to (GBA)
  • Parkinson disease, susceptibility to (TBP)
  • Peroxisome biogenesis disorder 4A (Zellweger (PEX6)
  • Peroxisome biogenesis disorder 4B (PEX6)
  • Peroxisome biogenesis disorder 6A, Zellweger (PPEX10)
  • Peroxisome biogenesis disorder 6B (PEX10)
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (TYROBP)
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (TREM2)
  • Pontocerebellar hypoplasia, type 12 (COASY)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
  • RIDDLE [radiosensitivity, immunodeficiency, dysmorphic facies, lD] syndrome (RNF168)
  • Retinitis pigmentosa 31 (TOPORS)
  • Sandhoff disease, infantile, juvenile + adult forms (HEXB)
  • Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
  • Spastic ataxia 5, AR (AFG3L2)
  • Spastic paraplegia 35, AR (FA2H)
  • Spastic paraplegia 46, AR (GBA2)
  • Spastic paraplegia 78, AR (ATP13A2)
  • Spinocerebellar ataxia 1 (ATXN1_CAG)
  • Spinocerebellar ataxia 10 (ATCN10_ATTCT)
  • Spinocerebellar ataxia 11 (TTBK2)
  • Spinocerebellar ataxia 12 (PPP2R2B)
  • Spinocerebellar ataxia 13 (KCNC3)
  • Spinocerebellar ataxia 14 (PRKCG)
  • Spinocerebellar ataxia 17 (TBP)
  • Spinocerebellar ataxia 17 (TBP_CAG)
  • Spinocerebellar ataxia 19 (KCND3)
  • Spinocerebellar ataxia 2 (ATXN2_CAG)
  • Spinocerebellar ataxia 21 (TMEM240)
  • Spinocerebellar ataxia 23 (PDYN)
  • Spinocerebellar ataxia 25 (PNPT1)
  • Spinocerebellar ataxia 26 (EEF2)
  • Spinocerebellar ataxia 27 (FGF14)
  • Spinocerebellar ataxia 28 (AFG3L2)
  • Spinocerebellar ataxia 29, congenital nonprogressive (ITPR1)
  • Spinocerebellar ataxia 31 (BEAN1_TGGAA)
  • Spinocerebellar ataxia 34 (ELOVL4)
  • Spinocerebellar ataxia 35 (TGM6)
  • Spinocerebellar ataxia 36 (NOP56_GGCCTG)
  • Spinocerebellar ataxia 37 (DAB1)
  • Spinocerebellar ataxia 38 (ELOVL5)
  • Spinocerebellar ataxia 40 (CCDC88C)
  • Spinocerebellar ataxia 41 (TRPC3)
  • Spinocerebellar ataxia 42 (CACNA1G)
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (CACNA1G)
  • Spinocerebellar ataxia 43 (MME)
  • Spinocerebellar ataxia 44 (GRM1)
  • Spinocerebellar ataxia 45 (FAT2)
  • Spinocerebellar ataxia 46 (PLD3)
  • Spinocerebellar ataxia 47 (PUM1)
  • Spinocerebellar ataxia 48 (STUB1)
  • Spinocerebellar ataxia 49 (SAMD9L)
  • Spinocerebellar ataxia 5 (SPTBN2)
  • Spinocerebellar ataxia 6 (CACNA1A_CAG + CACNA1A)
  • Spinocerebellar ataxia 7 (ATXN7_CAG)
  • Spinocerebellar ataxia, AR 10 (ANO10)
  • Spinocerebellar ataxia, AR 11 (SYT14)
  • Spinocerebellar ataxia, AR 12 (WWOX)
  • Spinocerebellar ataxia, AR 13 (GRM1)
  • Spinocerebellar ataxia, AR 14 (SPTBN2)
  • Spinocerebellar ataxia, AR 15 (RUBCN)
  • Spinocerebellar ataxia, AR 16 (STUB1)
  • Spinocerebellar ataxia, AR 17 (CWF19L1)
  • Spinocerebellar ataxia, AR 18 (GRID2)
  • Spinocerebellar ataxia, AR 2 (PMPCA)
  • Spinocerebellar ataxia, AR 21 (SCYL1)
  • Spinocerebellar ataxia, AR 23 (TDP2)
  • Spinocerebellar ataxia, AR 29 (VPS41)
  • Spinocerebellar ataxia, AR 4 (VPS13D)
  • Spinocerebellar ataxia, AR 7 (TPP1)
  • Spinocerebellar ataxia, AR 8 (SYNE1)
  • Spinocerebellar ataxia, AR, with axonal neuropathy 1 (TDP1)
  • Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)
  • Spongiform encephalopathy with neuropsychiatric features (PRNP)
  • Tay-Sachs disease (HEXA)
  • Woodhouse-Sakati syndrome (DCAF17)
  • or amyotrophic lateral sclerosis 4 (TBK1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

Test-Stärken

  • DAkkS-akkreditiertes Labor
  • EU-Richtlinie für IVD in Umsetzung
  • Qualitäts-kontrolliert arbeitendes Personal
  • Leistungsstarke Sequenzierungstechnologien, fortschrittliche Target-Anreicherungsmethoden und Präzisions-Bioinformatik-Pipelines sorgen für überragende analytische Leistung
  • Sorgfältige Kuratierung klinisch relevanter und wissenschaftlich begründeter Gen-Panels
  • eine Vielzahl nicht Protein-kodierender Varianten, die in unseren klinischen NGS-Tests mit erfasst werden
  • unser strenges Variantenklassifizierungsschema nach ACMG-Kriterien
  • unser systematischer klinischer Interpretations-Workflow mit proprietärer Software ermöglicht die genaue und nachvollziehbare Verarbeitung von NGS-Daten
  • unsere umfassenden klinischen Aussagen

Testeinschränkungen

  • Gene mit eingeschränkter Abdeckung werden gekennzeichnet
  • Gene mit kompletten oder partiellen Duplikationen werden gekennzeichnet
  • es wird angenommen, dass ein Gen suboptimal abgedeckt ist, wenn >90% der Nukleotide des Gens bei einem Mapping-Qualitätsfaktor von >20 (MQ>20) nicht abgedeckt sind
  • die Sensitivität der Diagnostik zur Erkennung von Varianten mit genannten Testeinschränkungen ist möglicherweise begrenzt bei:
  • Gen-Konversionen
  • komplexe Inversionen
  • Balancierte Translokationen
  • Mitochondriale Varianten
  • Repeat-Expansionen, sofern nicht anders dokumentiert
  • nicht kodierende Varianten, die Krankheiten verursachen, die von diesem Panel nicht mit abgedeckt werden
  • niedriger Mosaik-Status
  • Repeat-Blöcke von Mononukleotiden
  • Indels >50bp (Insertionen-Deletionen)
  • Deletionen oder Duplikationen einzelner Exons
  • Varianten innerhalb von Pseudogenen
  • die analytische Sensitivität kann geringer ausfallen werden, wenn die DNA nicht von amedes genetics extrahiert wurde

Laboratory requirement

  • Die in grün gezeigten Gene sind kuratiert und werden als Gen-Panel untersucht. Eine Erweiterung des Panels (blau gezeigte Gene, jeweils ebenfalls kuratiert) kann auf Anfrage erfolgen. Sofern unter "Erweitertes Panel" ein Minuszeichen angezeigt wird, sind nur Core-/Basis-Gene verfügbar.

  • Für die Anforderung einer genetischen Untersuchung senden Sie uns bitte die Krankheits-ID auf einem Überweisungsschein. Bitte die Material-Angabe beachten.

  • Für privat versicherte Patienten empfehlen wir einen Antrag auf Kostenübernahme bei der Krankenversicherung.

  • Die Untersuchung wird auch für Selbstzahler angeboten.