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Klinische FragestellungSpermatogenese-Störungen, Differentialdiagnose

Auftragsschein Klin. Fragestellung
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Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Spermatogenese-Störungen mit 4 "core candidate"-Genen bzw. zusammen genommen 45 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
SP8444
Anzahl Gene
45 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
6,6 kb (Core-/Core-canditate-Gene)
174,4 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[[Sanger]]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
DPY19L22277NM_173812.5AR
NR5A11386NM_004959.5AD
SOHLH11164NM_001101677.2AD
SPATA161710NM_031955.6AR
AK72172NM_152327.5AR
ARMC22649NM_032131.6AR
AURKC930NM_001015878.2AR
BRDT2874NM_001242805.2AR
CATSPER12343NM_053054.4AR
CFAP2513505NM_144668.6AR
CFAP435231NM_025145.7AR
CFAP445815NM_001164496.2AR
CFAP656298NM_194302.4AR
CFAP692914NM_001039706.3AR
CFAP703461NM_001367801.1AR
CFAP912405NM_033364.4AR
DNAH112798NM_015512.5AR
DNAH1713481NM_173628.4AR
FANCM6147NM_020937.4AR
FSIP220747NM_173651.4AR
KLHL101827NM_152467.5AD
MEIOB1044NM_001163560.3AR
NANOS1879NM_199461.4AD
PLCZ11827NM_033123.4AR
PMFBP13170NM_031293.3AR
PPP2R3C1477NM_017917.4AR
QRICH25854NM_032134.2AR
SEPTIN121077NM_001154458.3AD
SLC26A82913NM_001193476.2AD
SPEF25469NM_024867.4AR
SPINK2922NM_001271718.2AR
SUN51397NM_080675.4AR
SYCE11109NM_001143763.2AR
SYCP24679NM_014258.4AR
SYCP3711NM_153694.5AD
TAF4B2589NM_005640.3AR
TDRD94333NM_153046.3AR
TEX144476NM_198393.4AR
TEX159537NM_001350162.2AR
TSGA102370NM_025244.4AR
TTC21A4037NM_001105513.3AR
TTC291582NM_031956.4AR
USP9Y7668NM_004654.4YL
XRCC2843NM_005431.2AR
ZMYND152229NM_001136046.3AR

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
  • AR
  • YL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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