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Know how in the analysis of genetic material.
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IllnessSpermatogenesis, disturbed; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Spermatogenesis, disturbed, containing 4 core candidate genes and altogether 45 curated genes according to the clinical signs

ID
SP8444
Number of loci
Locus typeCount
Gen 45
Accredited laboratory test
Examined sequence length
6,6 kb (Core-/Core-canditate-Genes)
174,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[[Sanger]]

 

Loci

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
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

Informations about the disease

Clinical Comment

Group of diseases resulting in azoospermia/oligozoospermia and hence male infertility

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • YL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined