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

IllnessSleep disorders, secondary; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Sleep disorders, secondary, comprising altogether 128 curated genes according to the clinical signs

ID
SP8976
Number of genes
107 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
276,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ADCY53786NM_183357.3AD
AGA1041NM_000027.4AR
ANK33006NM_001149.4AR
ASCL1711NM_004316.4AD
ASH1L8895NM_018489.3AD
ASXL14626NM_015338.6AD
ASXL36747NM_030632.3AD
ATP1A33042NM_152296.5AD
ATP7B4398NM_000053.4AR
CACNA1A6786NM_001127221.2AD, Ass
CACNB41563NM_000726.5AD, Ass
CCDC221884NM_014008.5XLR
CHD78994NM_017780.4AD
CHRNA21590NM_000742.4AD
CHRNA41884NM_000744.7AD
CHRNB21509NM_000748.3AD
CLN31317NM_001042432.2AR
CLN51077NM_006493.4AR
CLN6936NM_017882.3AR
CLN8861NM_018941.4AR
CNBP534NM_003418.5AD
CRH591NM_000756.4Mult
CTSD1239NM_001909.5AR
CTSF1455NM_003793.4AR
CTSK990NM_000396.4AR
DEAF11698NM_021008.4AD, AR
DEPDC54812NM_001242896.3AD
DHCR71428NM_001360.3AR
DMD11058NM_004006.3XLR
DMPK1920NM_001081563.2AD
DNAJC5597NM_025219.3AD
EDN3717NM_207034.3AD, AR
EHMT13897NM_024757.5AD
EXT12241NM_000127.3AD
FBN18616NM_000138.5AD
FDFT11254NM_004462.5AR
FGFR12469NM_023110.3Ass
FGFR22466NM_000141.5Ass
FGFR32421NM_000142.5Ass
FMR11899NM_002024.6XL
GAA2859NM_000152.5AR
GABBR22826NM_005458.8AD
GALNS1569NM_000512.5AR
GDNF636NM_000514.4AD
GFAP1299NM_002055.5AD
GJB1852NM_000166.6XL
GNS1659NM_002076.4AR
GPC31743NM_004484.4XLR, Sus
GPC41671NM_001448.3XLR, Sus
GRN1782NM_002087.4Ass
HDAC81134NM_018486.3XL
HGSNAT1908NM_152419.3AR
IDS1653NM_000202.8XLR
IDUA1962NM_000203.5AR
KANSL13318NM_001193466.2AD
KCNQ52772NM_001160130.2AD
KCNT13708NM_020822.3AD
KCTD7870NM_153033.5AR
KDM5B4635NM_006618.5AR
MAGEL23750NM_019066.5AD
MBD54485NM_018328.5AD
MECP21461NM_004992.4XL
MFSD81557NM_152778.3AR
MPZ747NM_000530.8AD
NAGLU2232NM_000263.4Ass
NDN966NM_002487.3AD
NDP402NM_000266.4XLR
NF18457NM_001042492.3Ass
NF21788NM_000268.4AD
NIPBL8415NM_133433.4AD
NPC13837NM_000271.5AR
NPC2456NM_006432.5AR
OFD13039NM_003611.3XL
PHOX2B945NM_003924.4AD
PIGA1455NM_002641.4XLR
PMP22483NM_000304.4Ass
POLR1C1041NM_203290.4AR
POLR1D402NM_015972.4Ass
POLR2A5913NM_000937.5AD
PPT1921NM_000310.4AR
RAB23714NM_183227.3AR
RAD211896NM_006265.3Ass
RAI15721NM_030665.4AD
RBM102793NM_005676.5XLR
RET3345NM_020975.6Ass
SEMA3E2328NM_012431.3AD
SEPSECS1506NM_016955.4AR
SGSH1509NM_000199.5AR
SHANK35386NM_001372044.2AD
SLC2A11479
  • No OMIM-Gs linked
NM_006516.4AD
SLC6A41893NM_001045.6AD
SMC1A3702NM_006306.4XL
SMC33654NM_005445.4Ass
SMN1885NM_000344.4AR
SNRPN723NM_003097.6AD
SPR786NM_003124.5AR, AD
SUMF11125NM_182760.4AR
TCF42016NM_001083962.2AD
TCOF14467NM_001135243.2AD
TH1587NM_199292.3AR
TPP11692NM_000391.4AR
TRPV42616NM_021625.5AD
TSC13495NM_000368.5Sus, AD
TSC25424NM_000548.5AD, Sus
TWIST1609NM_000474.4AD
UBE3A2559NM_130838.4AD, Mult
WASHC53480NM_014846.4AD, AR

Informations about the disease

Clinical Comment

While some progress has been made in the detection of genetic sleep disorders in adults, the same disorders, affecting up to 30% of healthy children, are still too rarely recognized. Inborn errors of metabolism and non-metabolic genetic syndromes usually manifest in early childhood with progressive neuromuscular, skeletal and/or neurocognitive abnormalities. Affected children often suffer from inadequate sleep, which is associated with impaired breathing as well. Sleep-related breathing disorders are quite common in the general population. Nevertheless, children and young adults with genetic conditions associated with sleep-related breathing disorders are rarely also investigated by molecular genetic methods. Overall, the genetics of sleep-related disorders presents as extremely heterogeneous, and only rarely can monogenic causes be clearly demonstrated.

Reference: https://www.frontiersin.org/articles/10.3389/fneur.2014.00133/full

 

Synonyms
  • Def.: secondary sleep disorders due to underlying medical conditions
  • Alias: MECP2-related severe neonatal encephalopathy (MECP2)
  • Allelic: Brachyolmia type 3 (TRPV4)
  • Allelic: Chondrosarcoma (EXT1)
  • Allelic: Digital arthropathy-brachydactyly, familial (TRPV4)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 16 (KCNMA1)
  • Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 6 (CACNB4)
  • Allelic: Hereditary motor + sensory neuropathy, type IIc (TRPV4)
  • Allelic: Leukemia, juvenile myelomonocytic (NF1)
  • Allelic: Metatropic dysplasia (TRPV4)
  • Allelic: Neuronopathy, distal hereditary motor, type VIII (TRPV4)
  • Allelic: Premature ovarian failure 1 (FMR1_CCG)
  • Allelic: Retinitis pigmentosa 73 (HGSNAT)
  • Allelic; Epilepsy, idiopathic generalized, susceptibility to, 9 (CACNB4)
  • AD nocturnal frontal lobe epilepsy (CRH)
  • ATP1A3-related neurologic disorders (ATP1A3)
  • Achondroplasia (FGFR3)
  • Acromicric dysplasia (FBN1)
  • Advanced sleep-phase syndrome, familial, 2 (CSNK1D)
  • Alexander disease (GFAP)
  • Alternating hemiplegia of childhood 1 (ATP1A2)
  • Alternating hemiplegia of childhood 2 (ATP1A3)
  • Angelman syndrome (UBE3A)
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
  • Anxiety-related personality traits (SLC6A4)
  • Apert syndrome (FGFR2)
  • Aphasia, primary progressive (GRN)
  • Aspartylglucosaminuria (AGA)
  • Avascular necrosis of femoral head, primary, 2 (TRPV4)
  • Bainbridge-Ropers syndrome (ASXL3)
  • Beare-Stevenson cutis gyrata syndrome (FGFR2)
  • Becker muscular dystrophy (DMD)
  • Bent bone dysplasia syndrome (FGFR2)
  • Bohring-Opitz syndrome (ASXL1)
  • Brachyolmia type 3 (TRPV4)
  • CAPOS syndrome (ATP1A3)
  • CATSHL syndrome (FGFR3)
  • CHARGE syndrome (CHD7, SEMA3E)
  • Cardiomyopathy, dilated, 3B (DMD)
  • Carpenter syndrome (RAB23)
  • Central hypoventilation syndrome, congenital, 1, +/- Hirschsprung disease (PHOX2B)
  • Cerebellar ataxia, deafness, and narcolepsy, AD (DNMT1)
  • Cerebellar atrophy, developmental delay, seizures (KCNMA1)
  • Ceroid lipofuscinosis, neuronal, 1 (PPT1)
  • Ceroid lipofuscinosis, neuronal, 10 (CTSD)
  • Ceroid lipofuscinosis, neuronal, 11 (GRN)
  • Ceroid lipofuscinosis, neuronal, 13 (Kufs type), AD (CTSF)
  • Ceroid lipofuscinosis, neuronal, 2 (TPP1)
  • Ceroid lipofuscinosis, neuronal, 3 (CLN3)
  • 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)
  • Charcot-Marie-Tooth disease, dominant intermediate D (MPZ)
  • Charcot-Marie-Tooth disease, type 1A + 1E (PMP22)
  • Charcot-Marie-Tooth disease, type 1B, 2I, 2J (MPZ)
  • Charcot-Marie-Tooth neuropathy, XLD, 1 (GJB1)
  • Cognitive impairment with/-out cerebellar ataxia (SCN8A)
  • Congenital central hypoventilation syndrome (PHOX2B)
  • Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
  • Cornelia de Lange syndrome 1 (NIPBL)
  • Cornelia de Lange syndrome 2 (SMC1A)
  • Cornelia de Lange syndrome 3 (SMC3)
  • Cornelia de Lange syndrome 4 (RAD21)
  • Cornelia de Lange syndrome 5 (HDAC8)
  • Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
  • Craniosynostosis 1 (TWIST1)
  • Craniosynostosis, nonspecific (FGFR2)
  • Crouzon syndrome (FGFR2)
  • Crouzon syndrome with acanthosis nigricans (FGFR3)
  • Dejerine-Sottas disease (MPZ, PMP22)
  • Developmental + epileptic encephalopathy 14 (KCNT1)
  • Developmental + epileptic encephalopathy 85 +/- midline brain defects (SMC1A)
  • Developmental and epileptic encephalopathy 13 (SCN8A)
  • Developmental and epileptic encephalopathy 42 (CACNA1A)
  • Developmental and epileptic encephalopathy 59 (GABBR2)
  • Developmental and epileptic encephalopathy 6B, non-Dravet (SCN1A)
  • Developmental and epileptic encephalopathy 7 (KCNQ2)
  • Developmental and epileptic encephalopathy 98 (ATP1A2)
  • Digital arthropathy-brachydactyly, familial (TRPV4)
  • Dravet syndrome (SCN1A)
  • Duchenne muscular dystrophy (DMD)
  • Dyskinesia, familial, with facial myokymia (ADCY5)
  • Dyskinesia, limb + orofacial, infantile-onset (PDE10A)
  • Dystonia 9 (SLC2A1)
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (SPR)
  • Dystonia-12 (ATP1A3)
  • Ectopia lentis, familial (FBN1)
  • Encephalopathy, neonatal severe (MECP2)
  • Epilepsy, familial focal, with variable foci 1 (DEPDC5)
  • Epilepsy, nocturnal frontal lobe, 1 (CHRNA4)
  • Epilepsy, nocturnal frontal lobe, 3 (CHRNB2)
  • Epilepsy, nocturnal frontal lobe, 5 (KCNT1)
  • Epilepsy, nocturnal frontal lobe, type 4 (CHRNA2)
  • Epilepsy, progressive myoclonic 3, with/-out intracellular inclusions (KCTD7)
  • Episodic ataxia, type 2 (CACNA1A)
  • Episodic ataxia, type 5 (CACNB4)
  • Episodic ataxia, type 6 (SLC1A3)
  • Episodic ataxia/myokymia syndrome (KCNA1)
  • Episodic kinesigenic dyskinesia 1 (PRRT2)
  • Exostoses, multiple, type 1 [1 family] (EXT1)
  • Exudative vitreoretinopathy 2, XL (NDP)
  • Febrile seizures, familial, 3A (SCN1A)
  • Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, dysmorphic face (ATP1A2)
  • Fragile X syndrome (FMR1_CCG)
  • Fragile X tremor/ataxia syndrome (FMR1_CCG)
  • Friedreich ataxia (FXN_GAA, FXN)
  • Friedreich ataxia with retained reflexes (FXN)
  • Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
  • GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
  • GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
  • Geleophysic dysplasia 2 (FBN1)
  • Generalized epilepsy with febrile seizures plus, type 2 (SCN1A)
  • Glycogen storage disease II (GAA)
  • Hartsfield syndrome (FGFR1)
  • Hereditary motor + sensory neuropathy, type IIc (TRPV4)
  • Hirschsprung disease, susceptibility to, 3 (GDNF)
  • Hyperekplexia 1 (GLRA1)
  • Hyperekplexia 2 (GLRB)
  • Hyperekplexia 3 (SLC6A5)
  • Hyperekplexia 4 (ATAD1)
  • Hypochondroplasia (FGFR3)
  • Hypogonadotropic hypogonadism 2 +/- anosmia (FGFR1)
  • Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
  • Hypomyelinating neuropathy, congenital, 2 (MPZ)
  • Intellectual developmental disorder + paroxysmal dyskinesia/seizures (PDE2A)
  • Jackson-Weiss syndrome (FGFR1)
  • Jackson-Weiss syndrome (FGFR2)
  • Kleefstra syndrome 1 (EHMT1)
  • Koolen-De Vries syndrome (KANSL1)
  • LADD syndrome (FGFR2, FGFR3)
  • Leukodystrophy, hypomyelinating, 11 (POLR1C)
  • Liang-Wang syndrome (KCNMA1)
  • Lymphangioleiomyomatosis (TSC1)
  • MASS syndrome (FBN1)
  • Macular dystrophy with central cone involvement (MFSD8)
  • Marfan lipodystrophy syndrome (FBN1)
  • Marfan syndrome (FBN1)
  • Medullary thyroid carcinoma (RET)
  • Mental retardation, AD 1 (MBD5)
  • Mental retardation, AD 46 (KCNQ5)
  • Mental retardation, AD 52 (ASH1L)
  • Mental retardation, AR 65 (KDM5B)
  • Mental retardation, AR, 37 (ANK3)
  • Mental retardation, XL syndromic, Lubs type (MECP2)
  • Mental retardation, XL, syndromic 13 (MECP2)
  • Metatropic dysplasia (TRPV4)
  • Migraine, familial basilar (ATP1A2)
  • Migraine, familial hemiplegic, 1 (CACNA1A)
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
  • Migraine, familial hemiplegic, 2 (ATP1A2)
  • Migraine, familial hemiplegic, 3 (SCN1A)
  • Migraine, with/-out aura, susceptibility to, 13 (KCNK18)
  • Mucopolysaccharidosis II (IDS)
  • Mucopolysaccharidosis IVA (GALNS)
  • Mucopolysaccharidosis Ih, Ih/s, Is (IDUA)
  • Mucopolysaccharidosis type IIIA [Sanfilippo A] (SGSH)
  • Mucopolysaccharidosis type IIIB [Sanfilippo B] (NAGLU)
  • Mucopolysaccharidosis type IIIC [Sanfilippo C] (HGSNAT)
  • Mucopolysaccharidosis type IIID (GNS)
  • Muenke syndrome (FGFR3)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2 (PIGA)
  • Multiple endocrine neoplasia IIA + IIB (RET)
  • Multiple sufatase deficiency (SUMF1)
  • Mungan syndrome (RAD21)
  • Myoclonus, familial, 2 (SCN8A)
  • Myokymia (KCNQ2)
  • Myotonic dystrophy 1 (DMPK)
  • Myotonic dystrophy 2 (CNBP)
  • Narcolepsy 7 (MOG)
  • Neuroblastoma with Hirschsprung disease (PHOX2B)
  • Neurodevelopmental disorder with hypotonia, autism +/- hyperkinesis (VAMP2)
  • Neurodevelopmental disorder with hypotonia, impaired expressive language +/- seizures (DEAF1)
  • Neurodevelopmental disorder with hypotonia, variable intellectual, behavioral abnormalities (POLR2A)
  • Neurodevelopmental disorder with poor language + loss of hand skills (GABBR2)
  • Neurofibromatosis, familial spinal (NF1)
  • Neurofibromatosis, type 1 (NF1)
  • Neurofibromatosis, type 2 (NF2)
  • Neurofibromatosis-Noonan syndrome (NF1)
  • Neuronopathy, distal hereditary motor, type VIII (TRPV4)
  • Neuropathy, hereditary sensory, type IE (DNMT1)
  • Neuropathy, inflammatory demyelinating (PMP22)
  • Neuropathy, recurrent, with pressure palsies (PMP22)
  • Niemann-Pick disease, type C1 + D (NPC1)
  • Niemann-Pick disease, type C2 (NPC2)
  • Norrie disease (NDP)
  • Obsessive-compulsive disorder (SLC6A4)
  • Osteoglophonic dysplasia (FGFR1)
  • Parastremmatic dwarfism (TRPV4)
  • Paroxysmal nonkinesigenic dyskinesia 1 (PNKD)
  • Paroxysmal nonkinesigenic dyskinesia, 3, with/-out generalized epilepsy (KCNMA1)
  • Pfeiffer syndrome (FGFR1, FGFR2)
  • Pfeiffer syndrome (FGFR2)
  • Phelan-McDermid syndrome SHANK3)
  • Pheochromocytoma (RET)
  • Pitt-Hopkins syndrome (TCF4)
  • Pontocerebellar hypoplasia type 2D (SEPSECS)
  • Prader-Willi syndrome (NDN, SNRPN)
  • Pycnodysostosis (CTSK)
  • Pycnodysostosis, Toulouse-Lautrec Syndrome (CTSK)
  • Rett syndrome (MECP2)
  • Rett syndrome, atypical (MECP2)
  • Rett syndrome, preserved speech variant (MECP2)
  • Ritscher-Schinzel syndrome (CCDC22)
  • Ritscher-Schinzel syndrome (WASHC5)
  • Robinow-Sorauf syndrome (TWIST1)
  • Roussy-Levy syndrome (MPZ, PMP22)
  • SADDAN (FGFR3)
  • SED, Maroteaux type (TRPV4)
  • Saethre-Chotzen syndrome (FGFR2)
  • Saethre-Chotzen syndrome (TWIST1)
  • Saethre-Chotzen syndrome +/- eyelid anomalies (TWIST1)
  • Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
  • Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
  • Scapuloperoneal spinal muscular atrophy (TRPV4)
  • Schaaf-Yang syndrome (MAGEL2)
  • Schizophrenia 15 (SHANK3)
  • Segawa syndrome, AR (TH)
  • Seizures, benign familial infantile, 2 (PRRT2)
  • Seizures, benign familial infantile, 5 (SCN8A)
  • Seizures, benign neonatal, 1 (KCNQ2)
  • Simpson-Golabi-Behmel syndrome, type 1 (GPC3, GPC4)
  • Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
  • Smith-Lemli-Opitz syndrome (DHCR7)
  • Smith-Magenis syndrome (RAI1)
  • Spastic paraplegia 8, AD (WASHC5)
  • Spinal muscular atrophy 1-4 (SMN1)
  • Spinocerebellar ataxia 6 (CACNA1A)
  • Spinocerebellar ataxia, AR 7 (TPP1)
  • Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)
  • Squalene synthase deficiency (FDFT1)
  • Stiff skin syndrome (FBN1)
  • Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
  • Striatal degeneration, AD (PDE10A)
  • Sweeney-Cox syndrom (TWIST1)
  • Syndromic/ nonsyndromic intellectual disability (MECP2)
  • TARP [talipes equinovarus, atrial septal def., Robin s., pers. left sup. vena cava] syndrome (RBM19)
  • Thanatophoric dysplasia, type I + II (FGFR3)
  • Treacher Collins syndrome 1 (TCOF1)
  • Treacher Collins syndrome 2 (POLR1D)
  • Treacher Collins syndrome 3 (POLR1C)
  • Trigonocephaly 1 (FGFR1)
  • Tuberous sclerosis-1 (TSC1)
  • Tuberous sclerosis-2 (TSC2)
  • Vulto-van Silfout-de Vries syndrome (DEAF1)
  • Waardenburg syndrome, type 4B (EDN3)
  • Watson syndrome (NF1)
  • Weill-Marchesani syndrome 2, AD (FBN1)
  • Wilson disease (ATP7B)
  • ataxia syndrome (FMR1_CCG)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Ass
  • Mult
  • 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.