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IllnessSpinocerebellar ataxia, autosomal recessive; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Spinocerebellar ataxia, autosomal recessive, comprising 12 guideline-curated and altogether 127 curated genes according to the clinical signs

ID
SP9759
Number of genes
126 Accredited laboratory test
Examined sequence length
64,7 kb (Core-/Core-canditate-Genes)
311,6 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
ATM9171NM_000051.4AR
CYP27A11596NM_000784.4AR
FXN633NM_000144.5AR
NPC13837NM_000271.5AR
NPC2456NM_006432.5AR
PEX7972NM_000288.4AR
PHYH1017NM_006214.4AR
POLG3720NM_002693.3AR, AD
SACS13740NM_014363.6AR
SPG72388NM_003119.4AR, AD
SYNE126250NM_033071.4AR
TTPA837NM_000370.3AR
AAAS1641NM_015665.6AR
ABHD121197NM_001042472.3AR
ACO22343NM_001098.3AR, AD
ADGRG12064NM_005682.7AR
ADPRS1098NM_017825.3AR
AFG3L22394NM_006796.3AR, AD
AMPD22478NM_001368809.2AR
ANO101983NM_018075.5AR
APTX1029NM_175073.3AR
ARSA1530NM_000487.6AR
ATAD3A1761NM_001170535.3AR
ATCAY1116NM_033064.5AR
ATG72031NM_001136031.3AR
ATP8A23567NM_016529.6AR
B3GALNT21503NM_152490.5AR
CA8873NM_004056.6AR
CAPN12145NM_001198868.2AR
CHMP1A591NM_002768.5AR
CLCN22697NM_004366.6AR
CLN51077NM_006493.4AR
CLN6936NM_017882.3AR
COA7699NM_023077.3AR
COQ8A1944NM_020247.5AR
COX20357NM_198076.6AR
CP3198NM_000096.4AR
CRPPA1356NM_001101426.4AR
CWF19L11617NM_018294.6AR
CYP2U11635NM_183075.3AR
DARS21938NM_018122.5AR
DDHD22136NM_015214.3AR
DNAJC19351NM_145261.4AR
EIF2B1918NM_001414.4AR
EIF2B21056NM_014239.4AR
EIF2B31359NM_020365.5AR
EIF2B41569NM_015636.4AR
EIF2B52166NM_003907.3AR
EPM2A996NM_005670.4AR
EXOSC3828NM_016042.4AR
FA2H1119NM_024306.5AR
FKRP1488NM_024301.5AR
FKTN1386NM_001079802.2AR
FLVCR11668NM_014053.4AR
FOLR1774NM_016725.3AR
GBA22784NM_020944.3AR
GDAP21757NM_001135589.3AR
GJC21320NM_020435.4AR
GLRX5474NM_016417.3AR
GMPPB1164NM_013334.4AR
GOSR2639NM_004287.5AR
GRID23024NM_001510.4AR
GRM13585NM_001278064.2AR
HEXA1590NM_000520.6AR
HEXB1671NM_000521.4AR
HIKESHI647NM_016401.4AR
ITPR18088NM_002222.7AD, AR
KCNJ101140NM_002241.5AR
KIF1C3312NM_006612.6AR
LAMA19228NM_005559.4AR
MARS21782NM_138395.4AR
MMACHC849NM_015506.3AR
MTCL14996NM_015210.4AR
MTTP2685NM_000253.4AR
MVK1191NM_000431.4AR
NHLRC11188NM_198586.3AR
NKX6-2837NM_177400.3AR
OPA3540NM_025136.4AR
PAX61269NM_000280.5AR
PEX161011NM_004813.4AR
PLA2G62421NM_003560.4AR
PMPCA1875NM_015160.3AR
PNKP1566NM_007254.4AR
PNPLA63984NM_006702.5AR
POLR3A4173NM_007055.4AR
POLR3B3402NM_018082.6AR, AD
POMGNT11983NM_017739.4AR
POMGNT21743NM_032806.6AR
POMT12244NM_007171.4AR
POMT22253NM_013382.7AR
PTF1A987NM_178161.3AR
RARS21737NM_020320.5AR
RELN10383NM_005045.4AR
RNF2162772NM_207111.4AR
ROBO34161NM_022370.4AR
SAR1B597NM_001033503.3AR
SCYL12642NM_001048218.2AR
SETX8034NM_015046.7AR
SIL11386NM_022464.5AR
SLC25A461257NM_138773.4AR
SLC2A11479
  • No OMIM-Gs linked
NM_006516.4AD, AR
SLC52A21338NM_024531.5AR
SLC9A12448NM_003047.5AR
SNX142841NM_153816.6AR
SPTBN27173NM_006946.4AD, AR
SQSTM11323NM_003900.5AR
SRD5A3957NM_024592.5AR
STUB1912NM_005861.4AD, AR
TDP21089NM_016614.3AR
THG1L909NM_017872.5AR
TPP11692NM_000391.4AR
TSEN21398NM_025265.4AR
TSEN34933NM_024075.5AR
TSEN541581NM_207346.3AR
TTC19822NM_001271420.2AR
TWNK2055NM_021830.5AD, AR
UBA51255NM_024818.6AR
VLDLR2622NM_003383.5AR
VPS13D13236NM_015378.4AR
VRK11191NM_003384.3AR
VWA3B3885NM_144992.5AR
WDR731137NM_032856.5AR
WDR815826NM_001163809.2AR
WFS12673NM_006005.3AR
WWOX1245NM_016373.4AR
XRCC11902NM_006297.3AR

Informations about the disease

Clinical Comment

Autosomal recessive ataxias (ARCAs; spinocerebellar ataxias, recessive) are a heterogeneous group of rare neurodegenerative genetic disorders that can begin at any age, but typically before early adulthood. Pathophysiologically, two main groups are distinguished, predominantly sensory or afferent ataxias (mainly impaired peripheral input to the cerebellum) and predominantly cerebellar ataxias (preferential cerebellum affection). ARCAs account for more than 50% of all genetic ataxias. The most common forms in the Caucasian population are Friedreich's ataxia, ataxia-telangiectasia and early-onset cerebellar ataxias. Other forms such as ARCA1 caused by SYNE1 mutations are much rarer. Based on clinical genetic criteria, several major types of ARCAs have been distinguished: congenital ataxias, ataxias associated with metabolic disorders, ataxias with DNA repair defects, degenerative ataxias, and ataxias associated with other features. In addition, other complex movement disorders or recessive multisystem disorders may also present with marked ataxia. Furthermore, there are a number of recessive disorders that occasionally present with ataxia, but in which ataxia is a secondary feature. The ataxic movement disorders are usually progressive and often result in the need for walking aids or a wheelchair. Clinical diagnosis is confirmed by complementary tests such as neuroimaging, electrophysiological studies, and mutation analysis. A correct clinical and genetic diagnosis is important not only for appropriate genetic counseling and prognosis, but also for pharmacological treatment in some cases (Q10 deficiency, abetalipoproteinemia etc.). Due to the autosomal recessive inheritance, a positive family history of the patient is unlikely. The differential diagnosis includes more than 120 genes, with an overall yield of >50% in ARCAs. Nevertheless, a negative molecular genetic result does not exclude the clinical diagnosis.

Reference: https://pubmed.ncbi.nlm.nih.gov/29325611/

 

Synonyms
  • Alias: AR Ataxia with cerebellar anomalies
  • Alias: Cerebellar ataxia, AR
  • Alias: SCA, autosomal recessive
  • Allelic: Amyotrophic lateral sclerosis 4, juvenile (SETX)
  • Allelic: Breast cancer, susceptibility to (ATM)
  • Allelic: Laurence-Moon syndrome (PNPLA6)
  • Allelic: Lymphoma, B-cell non-Hodgkin, somatic (ATM)
  • Allelic: Lymphoma, mantle cell, somatic (ATM)
  • Allelic: Oliver-McFarlane syndrome (PNPLA6)
  • Allelic: Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
  • Allelic: Spastic paraplegia 39, AR (PNPLA6)
  • Allelic: T-cell prolymphocytic leukemia, somatic (ATM)
  • 3-methylglutaconic aciduria, type III (OPA3)
  • 3-methylglutaconic aciduria, type V (DNAJC19)
  • Abetalipoproteinemia (MTTP)
  • Achalasia-addisonianism-alacrimia syndrome (AAAS)
  • Allelic: Anemia, sideroblastic, 3, pyridoxine-refractory (GLRX5)
  • Allelic: Developmental + epileptic encephalopathy 44 (UBA5)
  • Allelic: Gastrointestinal defects and immunodeficiency syndrome 2 (PI4KA)
  • Allelic: Hemosiderosis, systemic, due to aceruloplasminemia (CP)
  • Allelic: Hyper-IgD syndrome (MVK)
  • Allelic: Hypoceruloplasminemia, hereditary (CP)
  • Allelic: Optic atrophy 12 (AFG3L2)
  • Allelic: Porokeratosis 3, multiple types (MVK)
  • Allelic: Spinocerebellar ataxia 15 (ITPR1)
  • Allelic: Spinocerebellar ataxia 28 (AFG3L2)
  • Allelic: Spinocerebellar ataxia 29, congenital nonprogressive (ITPR1)
  • Aniridia, cerebellar ataxia, and mental retardation [panelapp] (PAX6)
  • Ataxia with isolated vitamin E deficiency (TTPA)
  • Ataxia, cerebellar, Cayman type (ADCAY)
  • Ataxia, early-onset, with oculomotor apraxia + hypoalbuminemia (APTX)
  • Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
  • Ataxia-oculomotor apraxia 4 (PNKP)
  • Ataxia-telangiectasia (ATM)
  • Ataxia-telangiectasia-like disorder 1 (MRE11)
  • Bardet-Biedl syndrome 1 (BBS1)
  • Behr syndrome (OPA1)
  • Boucher-Neuhauser syndrome (PNPLA6)
  • Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)
  • Cerebellar ataxia (CP)
  • Cerebellar ataxia + hypogonadotropic hypogonadism (RNF216)
  • Cerebellar ataxia + mental retardation with/-out quadrupedal locomotion 3 (CA8)
  • Cerebellar ataxia, mental retardation + dysequilibrium syndrome 2 (WDR81)
  • Cerebellar ataxia, mental retardation + dysequilibrium syndrome 4 (ATP8A2)
  • Cerebellar ataxia, neuropathy + vestibular areflexia syndrome (RFC1)
  • Cerebellar dysfunction, impaired intellectual development, hypogonadotropic hypogonadism (PRDM13)
  • Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
  • Cerebrotendinous xanthomatosis (CYP27A1)
  • Ceroid lipofuscinosis, neuronal, 5 (CLN5)
  • Ceroid lipofuscinosis, neuronal, 6 (CLN6)
  • Chylomicron retention disease (SAR1B)
  • Coenzyme Q10 deficiency, primary, 4 (COQ8A)
  • Combined oxidative phosphorylation deficiency 15 (MTFMT)
  • Combined oxidative phosphorylation deficiency 29 (TXN2)
  • Combined oxidative phosphorylation deficiency 3 (TSFM)
  • Congenital disorder of glycosylation, type Iq (SRD5A3)
  • D-bifunctional protein deficiency (HSD17B4)
  • Developmental and epileptic encephalopathy 50 (CAD)
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (SPR)
  • Encephalopathy, progressive, early-onset, brain edema +/- leukoencephalopathy (NAXE)
  • Epilepsy, progressive myoclonic 1A, Unverricht + Lundborg (CSTB)
  • Epilepsy, progressive myoclonic 2A [Lafora] (EPM2A)
  • Epilepsy, progressive myoclonic 2B [Lafora] (NHLRC1)
  • Epilepsy, progressive myoclonic 6 (GOSR2)
  • GLUT1 deficiency syndrome 1, infantile onset, severe; + 2Childhood onset (SLC2A1)
  • GM1-gangliosidosis, type I, II, III (GLB1)
  • GM2-gangliosidosis, several forms (HEXA)
  • Galloway-Mowat syndrome 1 (WDR73)
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1 (ROBO3)
  • Gillespie syndrome (ITPR1)
  • Glycosylphosphatidylinositol biosynthesis defect 15 (GPAA1)
  • Harel-Yoon syndrome (ATAD3A)
  • Hydrops, lactic acidosis, and sideroblastic anemia (LARS2)
  • Infantile cerebellar-retinal degeneration (ACO2)
  • Kahrizi syndrome (SRD5A3)
  • Leukodystrophy, hypomyelinating, 13 (HIKESHI)
  • Leukodystrophy, hypomyelinating, 23, ataxia, deafness, liver dysf., dilated cardiomyopathy (RNF220)
  • Leukodystrophy, hypomyelinating, 4 (HSPD1)
  • Leukodystrophy, hypomyelinating, 7, with/-out oligodontia +/- hypogonadotropic hypogonadism (POLR3A)
  • Leukodystrophy, hypomyelinating, 8, with/-out oligodontia +/- hypogonadotropic hypogonadism (POLR3B)
  • Leukoencephalopathy with ataxia (CLCN2)
  • Leukoencephalopathy with brain stem + spinal cord involvement + lactate elevation DARS2)
  • Leukoencephalopathy with vanishing white matter (EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5)
  • Lichtenstein-Knorr syndrome (SLC9A1)
  • Lissencephaly 2 [Norman-Roberts type] (RELN)
  • Marinesco-Sjogren syndrome (SIL1)
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM)
  • Metachromatic leukodystrophy (ARSA)
  • Methylmalonic aciduria and homocystinuria, cblC type (MMACHC)
  • Mevalonic aciduria (MVK)
  • Mitochondrial Ar ataxia syndrome [includes SANDO + SCAE] (POLG)
  • Mitochondrial DNA depletion syndrome 13, encephalomyopathic type (FBXL4)
  • Mitochondrial DNA depletion syndrome 14, encephalocardiomyopathic type (OPA1)
  • Mitochondrial DNA depletion syndrome 7 [hepatocerebral type] (TWNK)
  • Mitochondrial complex I deficiency, nuclear type 27 (MTFMT)
  • Mitochondrial complex III deficiency, nuclear type 2 (TTC19)
  • Mitochondrial complex IV deficiency (COX20)
  • Mucopolysaccharidosis type IVB, Morquio (GLB1)
  • Multiple mitochondrial dysfunctions syndrome 6 (PMPCB)
  • Muscular dystrophy-dystroglycanopathy (cong. + brain/eye anomalies), type A, 6 (LARGE1)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 13 (B4GAT1)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 14 (GMPPB)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 2 (POMT2)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 4 (FKTN)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 6 (LARGE1)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 7 (CRPPA)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies, type A, 11 (B3GALNT2)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies, type A, 8 (POMGNT2)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain/eye anomalies), type A, 10 (RXYLT1)
  • Muscular dystrophy-dystroglycanopathy (cong., impaired intell. development), type B, 6 (LARGE1)
  • Myopathy, mitochondrial, and ataxia (MSTO1)
  • NOR polyagglutination syndrome (A4GALT)
  • Neurodegeneration due to cerebral folate transport deficiency (FOLR1)
  • Neurodegeneration with ataxia, dystonia + gaze palsy, childhood-onset (SQSTM1)
  • Neurodegeneration with brain iron accumulation 2B (PLA2G6)
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia + seizures (ADPRS)
  • Neurodevelopmental disorder with impaired intellectual development, hypotonia, ataxia (DOCK3)
  • Neuropathy, hereditary motor and sensory, type VIB (SLC25A46)
  • Niemann-Pick disease, type C1 (NPC1)
  • Niemann-pick disease, type C2 (NPC2)
  • Pancreatic and cerebellar agenesis (PTF1A)
  • Peroxisome biogenesis disorder 4A, Zellweger (PEX6)
  • Peroxisome biogenesis disorder 8A (Zellweger) + 8B (PEX16)
  • Peroxisome biogenesis disorder 9B (PEX7)
  • Perrault syndrome 1 (HSD17B4)
  • Perrault syndrome 4 (LARS2)
  • Polymicrogyria, bilateral frontoparietal (ADGRG1)
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia + arthrogryposis (PI4KA)
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (ABHD12)
  • Pontocerebellar hypoplasia type 1A (VRK1)
  • Pontocerebellar hypoplasia type 2A, 4, 5 (TSEN54)
  • Pontocerebellar hypoplasia type 2B (TSEN2)
  • Pontocerebellar hypoplasia type 2C (TSEN34)
  • Pontocerebellar hypoplasia type 2D (SEPSECS)
  • Pontocerebellar hypoplasia, hypotonia, respiratory insuff. syndrome, neonatal lethal (ATAD3A)
  • Pontocerebellar hypoplasia, type 10 (CLP1)
  • Pontocerebellar hypoplasia, type 16 (MINPP1)
  • Pontocerebellar hypoplasia, type 17 (PRDM13)
  • Pontocerebellar hypoplasia, type 1B (EXOSC3)
  • Pontocerebellar hypoplasia, type 6 (RARS2)
  • Pontocerebellar hypoplasia, type 7 (TOE1)
  • Pontocerebellar hypoplasia, type 8 (CHMP1A)
  • Pontocerebellar hypoplasia, type 9 (AMPD2)
  • Poretti-Boltshauser syndrome (LAMA1)
  • Refsum disease (PHYH)
  • SESAME syndrome (KCNJ10)
  • Salla disease (SLC17A5)
  • Sandhoff disease, infantile, juvenile + adult forms (HEXB)
  • Sialic acid storage disorder, infantile (SLC17A5)
  • Spastic ataxia 2, AR (KIF1C)
  • Spastic ataxia 3, AR (MARS2)
  • Spastic ataxia 5, AR (AFG3L2)
  • Spastic ataxia 8, AR, with hypomyelinating leukodystrophy (NKX6-2)
  • Spastic ataxia, Charlevoix-Saguenay type (SACS)
  • Spastic paraplegia 35, AR (FA2H)
  • Spastic paraplegia 44, AR (GJC2)
  • Spastic paraplegia 46, Ar (GBA2)
  • Spastic paraplegia 54, AR (DDHD2)
  • Spastic paraplegia 56, AR (CYP2U1)
  • Spastic paraplegia 7, AR (SPG7)
  • Spastic paraplegia 76, AR (CAPB1)
  • Spastic paraplegia 79B, AR (UCHL1)
  • Spastic paraplegia 84, AR (PI4KA)
  • Spasticity, childhood-onset, with hyperglycinemia (GLRX5)
  • Spinocerebellar ataxia [panelapp] (MTCL1)
  • 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 20 (SNX14)
  • Spinocerebellar ataxia, AR 21 (SCYL1)
  • Spinocerebellar ataxia, AR 22 (VWA3B)
  • Spinocerebellar ataxia, AR 23 (TDP2)
  • Spinocerebellar ataxia, AR 24 (UBA5)
  • Spinocerebellar ataxia, AR 25 (ATG5)
  • Spinocerebellar ataxia, AR 26 (XRCC1)
  • Spinocerebellar ataxia, AR 27 (GDAP2)
  • Spinocerebellar ataxia, AR 28 (THG1L)
  • Spinocerebellar ataxia, AR 29 (VPS41)
  • Spinocerebellar ataxia, AR 30 (PITRM1)
  • Spinocerebellar ataxia, AR 31 (ATGT)
  • Spinocerebellar ataxia, AR 32 (PRDX3)
  • 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)
  • Spinocerebellar ataxia, AR, with axonal neuropathy 3 (COA7)
  • Succinic semialdehyde dehydrogenase deficiency (ALDH5A1)
  • Tay-Sachs disease (HEXA)
  • Wolfram syndrome 1 (WFS1)
  • Yoon-Bellen neurodevelopmental syndrome (OGDHL)
Heredity, heredity patterns etc.
  • AD
  • AR
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.