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ErkrankungLungenfibrose, idiopathische familiäre; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für idiopathische familiäre Lungenfibrose mit 11 bzw. zusammen genommen 31 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
FP9483
Anzahl Gene
31 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
24,0 kb (Core-/Basis-Gene)
63,1 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
AP3B13138AR
DKC11545XLR
HPS12103AR
HPS42127AR
PARN1920AD und/oder AR
RTEL13732AD und/oder AR
SFTPA2747AD
SFTPB1146AR
SFTPC594AD
TERT3399AD und/oder AR und/oder SMu und/oder Sus
TINF21356AD
ZCCHC82124AD und/oder AR
ABCA35115AR
ASAH11188AR
BLOC1S3609AR
BLOC1S6519AR
CASR3237AD und/oder AR
CSF2RA1203XL/YL
CSF2RB2694AR
DTNBP1813AR
FAM111B2115AD
FARSB1787AR
GBA1611AD und/oder AR und/oder Sus
HPS33015AR
HPS53048AR
HPS62328AR
ITGA33156AR
NKX2-11206AD
SLC34A22070AR
SLC7A71536AR
SMPD11896AR

Infos zur Erkrankung

Klinischer Kommentar

Nicht-neoplastische Erkrankung, die durch die Bildung von Narbengewebe innerhalb der Lunge gekennzeichnet ist, ohne dass eine Ursache bekannt ist

 

Synonyme
  • Alias: Pulmonal-Fibrose
  • Alias: Pulmonary fibrosis
  • Allelic: Chorea, hereditary benign (NKX2-1)
  • Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
  • Allelic: Gaucher disease, perinatal lethal (GBA)
  • Allelic: Hypocalcemia, AD (CASR)
  • Allelic: Hypocalcemia, AD, with Bartter syndrome (CASR)
  • Allelic: Leukemia, acute myeloid (TERT)
  • Allelic: Lewy body dementia, susceptibility to (GBA)
  • Allelic: Melanoma, cutaneous malignant, 9 (TERT)
  • Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
  • Allelic: Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
  • Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
  • Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
  • Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
  • Dyskeratosis congenita, AD (NAF1)
  • Dyskeratosis congenita, AD 2 (TERT)
  • Dyskeratosis congenita, AD 3 (TINF2)
  • Dyskeratosis congenita, AD 4 (RTEL1)
  • Dyskeratosis congenita, AD 6 (ACD)
  • Dyskeratosis congenita, AR 1 (NOP10)
  • Dyskeratosis congenita, AR 2 (NHP2)
  • Dyskeratosis congenita, AR 3 (WRAP53)
  • Dyskeratosis congenita, AR 4 (TERT)
  • Dyskeratosis congenita, AR 5 (RTEL1)
  • Dyskeratosis congenita, AR 6 (PARN)
  • Dyskeratosis congenita, AR 7 (ACD)
  • Dyskeratosis congenita, XL (DKC1)
  • Dyskeratosis congenita, XL (FAM111B)
  • Farber lipogranulomatosis (ASAH1)
  • Gaucher disease, type I, II, III, IIIC (GBA)
  • Hermansky-Pudlak syndrome 1 (HPS1)
  • Hermansky-Pudlak syndrome 2 (AP3B1)
  • Hermansky-Pudlak syndrome 3 (HPS3)
  • Hermansky-Pudlak syndrome 4 (HPS4)
  • Hermansky-Pudlak syndrome 5 (HPS5)
  • Hermansky-Pudlak syndrome 6 (HPS6)
  • Hermansky-Pudlak syndrome 7 (DTNBP1)
  • Hermansky-Pudlak syndrome 8 (BLOC1S3)
  • Hermansky-Pudlak syndrome 9 (BLOC1S6)
  • Hyperparathyroidism, neonatal (CASR)
  • Hypocalciuric hypercalcemia, type I (CASR)
  • Interstitial lung disease 1 (SFTPA1)
  • Interstitial lung disease, nephrotic syndrome + epidermolysis bullosa, congenital (ITGA3)
  • Lysinuric protein intolerance (SLC7A7)
  • Lysinuric protein intolerance (SMPD1)
  • Pulmonary alveolar microlithiasis (SLC34A2)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PARN)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 (ZCCHC8)
  • Pulmonary fibrosis, idiopathic (SFTPA2)
  • RIDDLE [radiosensitivity, immunodeficiency, dysmorphic face, learning difficult.] syndrome (RNF168)
  • Rajab interstitial lung disease with brain calcifications 1 (FARSB)
  • Rajab interstitial lung disease with brain calcifications 2 (FARSA)
  • Revesz syndrome (TINF2)
  • STING-associated vasculopathy, infantile-onset (STING1)
  • Surfactant metabolism dysfunction, pulmonary, 1 (SFTPB)
  • Surfactant metabolism dysfunction, pulmonary, 2 (SFTPC)
  • Surfactant metabolism dysfunction, pulmonary, 3 (ABCA3)
  • Surfactant metabolism dysfunction, pulmonary, 4 (CSF2RA)
  • Surfactant metabolism dysfunction, pulmonary, 5 (CSF2RB)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder AR und/oder Sus
  • AR
  • XL/YL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
J84.1

Bioinformatik und klinische Interpretation

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