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Klinische FragestellungAlopezie, syndromal; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Alopezie, syndromal, mit zusammen genommen 38 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
AP9948
Anzahl Gene
30 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Core-canditate-Gene)
60,6 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
AIRE1638NM_000383.4AD, AR
ALX41236NM_021926.4AD, AR
ASL1395NM_000048.4AR
BTD1572NM_001370658.1AR
DCAF171563NM_025000.4AR
EBP693NM_006579.3XL
EDA1176NM_001399.5XLR
EDAR1347NM_022336.4AD, AR
EDARADD648NM_145861.4AD, AR
EDNRA1284NM_001957.4AD
FAM111B2115NM_001142703.2AD
FLNA7920NM_001456.4XL
FOXN11947NM_003593.3AR
FOXP31296NM_014009.4XLR
GJB6786NM_006783.5AD, AR, digenisch
HLCS2181NM_000411.8AR
HTRA11443NM_002775.5n.k.
KLHL241975NM_017644.3AD
LMNA1995NM_170707.4n.k.
NSDHL1122NM_015922.3XL
OFD13039NM_003611.3XL
PMS22589NM_000535.7Sus, AR
PNPLA63984NM_006702.5AR
PORCN1386NM_203475.3XL
RBM282280NM_018077.3AR
RECQL43628NM_004260.4AR
RIN22688NM_018993.4AR
RIPK42355NM_020639.3AR
TP632043NM_003722.5AD
WNT10A1254NM_025216.3AR

Infos zur Erkrankung

Synonyme
  • ADULT [Acro-Dermato-Ungual-Lacrimal-Tooth] syndrome (TP63)
  • Allelic: Androgen insensitivity (AR)
  • Allelic: Androgen insensitivity, partial, with/-out breast cancer (ARAllelic: Hypospadias 1, XL (AR)
  • Allelic: Dermatitis, atopic, susceptibility to, 2 (FLG)
  • Allelic: Diabetes, type 1, susceptibility to (PTPN22)
  • Allelic: Neural tube defects, susceptibility to (MTHFR)
  • Allelic: Osteogenesis imperfecta, type XIX (MBTPS2)
  • Allelic: Prostate cancer, susceptibility to (AR)
  • Allelic: Rheumatoid arthritis, susceptibility to (PTPN22)
  • Allelic: Schizophrenia, susceptibility to (MTHFR)
  • Allelic: Spinal + bulbar muscular atrophy of Kennedy (AR)
  • Allelic: Thromboembolism, susceptibility to (MTHFR)
  • Allelic: Vascular disease, susceptibility to (MTHFR)
  • Alopecia, neurologic defects + endocrinopathy syndrome (RBM28)
  • Androgenetic alopecia [medline plus] (AR)
  • Argininosuccinic aciduria (ASL)
  • Autoimmune polyendocrinopathy syndrome , type I, with /-out reversible metaphyseal dysplasia (AIRE)
  • Biotinidase deficiency (BTD)
  • CARASIL syndrome (HTRA1)
  • CHILD syndrome [Cong. Hemidysplasia, Ichythyosiform erythrodema + Limb Defects] (NSDHL)
  • Chondrodysplasia punctata, XLD (EBP)
  • Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
  • Ectodermal dysplasia 1, hypohidrotic, XLR (EDA)
  • Ectodermal dysplasia 10A, hypohidrotic/hair/tooth type, AD (EDAR)
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, AR (EDAR)
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, AD (EDARADD)
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, AR (EDARADD)
  • Ectodermal dysplasia 2, Clouston type (GJB6)
  • Epidermolysis bullosa simplex, generalized, with scarring + hair loss (KLHL14)
  • Focal dermal hypoplasia (PORCN)
  • Frontonasal dysplasia 2 (ALX4)
  • Hay-Wells syndrome [ankyloblepharon-ectodermal defects-cleft lip/palate] (TP63)
  • Holocarboxylase synthetase deficiency (HLCS)
  • Homocystinuria due to MTHFR deficiency (MTHFR)
  • Hutchinson-Gilford progeria (LMNA)
  • Hypohidrotic ectodermal dysplasia (EDA, EDAR, EDARADD, WNT10A)
  • IFAP syndrome with/-out BRESHECK syndrome (MBTPS2)
  • Ichthyosis vulgaris (FLG)
  • Ichthyosis, congenital, AR 13 (SDR9C7)
  • Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
  • Incontinentia pigmenti (IKBKG)
  • Keratosis follicularis spinulosa decalvans, XL (MBTPS2)
  • Macrocephaly, alopecia, cutis laxa + scoliosis (RIN2)
  • Mandibulofacial dysostosis with alopecia (EDNRA)
  • Mismatch repair cancer syndrome 4 (PMS2)
  • Oliver-McFarlane syndrome (PNPLA6)
  • Olmsted syndrome, XL (MBTPS2)
  • Orofaciodigital syndrome I (OFD1)
  • Parietal foramina 2 (ALX4)
  • Poikiloderma, hered. fibrosing, with tendon contract., myopathy, pulmonary fibrosis (FAM111B)
  • Popliteal pterygium syndrome, Bartsocas-Papas type 1 (RIPK4)
  • Rapp-Hodgkin syndrome [anhidrotic ectodermal dysplasia + cleft lip/palate] (TP63)
  • Rickets, vitamin D-resistant, type IIA (VDR)
  • Rothmund-Thomson syndrome, type 2 (RECQL4)
  • Systemic lupus erythematosus susceptibility to (PTPN22)
  • T-cell immunodeficiency, congenital alopecia + nail dystrophy (FOXN1)
  • Terminal osseous dysplasia (FLNA)
  • Woodhouse-Sakati syndrome (DCAF17)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • Sus
  • XL
  • XLR
  • digenisch
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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