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ErkrankungSpermatogenese-Störungen

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Spermatogenese-Störungen mit 4 bzw. zusammen genommen 44 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
SP8444
Anzahl Gene
45 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
6,6 kb (Core-/Basis-Gene)
174,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[[Sanger]]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
DPY19L22277AR
NR5A11386AD und/oder AR
SOHLH11164AD und/oder AR
SPATA161710AR
AK72172AR
ARMC22649AR
AURKC930AR
BRDT2874AR
CATSPER12343AR
CFAP2513505AR
CFAP435231AD und/oder AR
CFAP445815AR
CFAP656298AR
CFAP692914AR
CFAP703461AR
CFAP912405AR
DNAH112798AR
DNAH1713481AR
FANCM6147AR und/oder Sus
FSIP220747AR
KLHL101827AD
MEIOB1044AR
NANOS1879AD
PLCZ11827AR
PMFBP13170AR
PPP2R3C1477AR
QRICH25854AR
SEPTIN121077AD
SLC26A82913AD
SPEF25469AR
SPINK2922AR
SUN51397AR
SYCE11109AR
SYCP24679AR
SYCP3711AD
TAF4B2589AR
TDRD94333AR
TEX144476AR
TEX159537AR
TSGA102370AR
TTC21A4037AR
TTC291582AR
USP9Y7668YL
XRCC2843AR
ZMYND152229AR

Infos zur Erkrankung

Klinischer Kommentar

Gruppe von Störungen, die zur Azoospermie/Oligozoospermie und damit zur Infertilität führen

 

Synonyme
  • Alias: Male infertility with spermatogenesis disorder
  • Allelic: 46, XX sex reversal 4 (NR5A1)
  • Allelic: 46XY sex reversal 3 (NR5A1)
  • Allelic: Adrenocortical insufficiency (NR5A1)
  • Allelic: Ciliary dyskinesia, primary, 37 (DNAH1)
  • Allelic: Fanconi anemia, complementation group U (XRCC2)
  • Allelic: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy + myopathy (PPP2R3C)
  • Allelic: Hydrocephalus, normal pressure, 1 (CFAP43)
  • Allelic: Ovarian dysgenesis 5 (SOHLH1)
  • Allelic: Pregnancy loss, recurrent, 4 (SYCP3)
  • Allelic: Premature ovarian failure 12 (SYCE1)
  • Allelic: Premature ovarian failure 15 (FANCM)
  • Allelic: Premature ovarian failure 17 (XRCC2)
  • Allelic: Premature ovarian failure 7 (NR5A1)
  • Spermatogenic failure (XRCC2)
  • Spermatogenic failure 1 (SYCP2)
  • Spermatogenic failure 10 (SEPTIN12)
  • Spermatogenic failure 11 (KLHL10)
  • Spermatogenic failure 12 (NANOS1)
  • Spermatogenic failure 13 (TAF4B)
  • Spermatogenic failure 14 (ZMYND15)
  • Spermatogenic failure 15 (SYCE1)
  • Spermatogenic failure 16 (SUN5)
  • Spermatogenic failure 17 (PLCZ1)
  • Spermatogenic failure 18 (DNAH1)
  • Spermatogenic failure 19 (CFAP43)
  • Spermatogenic failure 20 (CFAP44)
  • Spermatogenic failure 21 (BRDT)
  • Spermatogenic failure 22 (MEIOB)
  • Spermatogenic failure 23 (TEX14)
  • Spermatogenic failure 24 (CFAP69)
  • Spermatogenic failure 25 (TEX15)
  • Spermatogenic failure 26 (TSGA10)
  • Spermatogenic failure 27 (AK7)
  • Spermatogenic failure 28 (FANCM)
  • Spermatogenic failure 29 (SPINK2)
  • Spermatogenic failure 3 (SLC26A8)
  • Spermatogenic failure 30 (TDRD9)
  • Spermatogenic failure 31 (PMFBP1)
  • Spermatogenic failure 32 (SOHLH1)
  • Spermatogenic failure 33 (CFAP251)
  • Spermatogenic failure 34 (FSIP2)
  • Spermatogenic failure 35 (QRICH2)
  • Spermatogenic failure 36 (PPP2R3C)
  • Spermatogenic failure 37 (TTC21A)
  • Spermatogenic failure 38 (ARMC2)
  • Spermatogenic failure 39 (DNAH17)
  • Spermatogenic failure 4 (SYCP3)
  • Spermatogenic failure 40 (CFAP65)
  • Spermatogenic failure 41 (CFAP70)
  • Spermatogenic failure 42 (TTC29)
  • Spermatogenic failure 43 (SPEF2)
  • Spermatogenic failure 5 (AURKC)
  • Spermatogenic failure 6 (SPATA)
  • Spermatogenic failure 7 (CATSPER1)
  • Spermatogenic failure 8 (NR5A1)
  • Spermatogenic failure 9 (DPY19L2)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AR
  • AR und/oder Sus
  • YL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
N46

Bioinformatik und klinische Interpretation

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