English
Klinische FragestellungNeuropathie, distale hereditäre motorische / Muskelatrophien, distale spinale; Differentialdiagnose
Zusammenfassung
Kurzinformation
DP6699a_KI
ID
DP6699
Anzahl Loci
| Loci-Typ | Anzahl |
|---|---|
| Gen | 30 |
Untersuchte Sequenzlänge
52,2 kb (Core-/Core-canditate-Gene)
62,4 kb (Erweitertes Panel: inkl. additional genes)
62,4 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Locipanel
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ASAH1 | 1188 | NM_177924.5 | AR | |
| ATP7A | 4503 | NM_000052.7 | XLR | |
| BICD2 | 2568 | NM_001003800.2 | XLR | |
| BSCL2 | 1197 | NM_032667.6 | AD | |
| CHCHD10 | 429 | NM_213720.3 | AD | |
| DNAJB2 | 834 | NM_001039550.2 | AR | |
| DYNC1H1 | 13941 | NM_001376.5 | AD | |
| EXOSC3 | 828 | NM_016042.4 | AR | |
| EXOSC8 | 831 | NM_181503.3 | AR | |
| FBXO38 | 2832 | NM_001271723.2 | AD | |
| GARS1 | 2220 | NM_002047.4 | AD | |
| HSPB8 | 591 | NM_014365.3 | AD | |
| IGHMBP2 | 2982 | NM_002180.3 | AR | |
| PLEKHG5 | 3189 | NM_020631.6 | AR | |
| REEP1 | 606 | NM_022912.3 | AR | |
| SLC5A1 | 1995 | NM_000343.4 | AR | |
| SMN1 | 885 | NM_000344.4 | AR | |
| TFG | 1203 | NM_006070.6 | AR, AD | |
| TRPV4 | 2616 | NM_021625.5 | AD | |
| TSEN54 | 1581 | NM_207346.3 | AR | |
| UBA1 | 3177 | NM_003334.4 | XLR | |
| VAPB | 732 | NM_004738.5 | AD | |
| VRK1 | 1191 | NM_003384.3 | AR | |
| AARS1 | 2927 | NM_001605.3 | AD | |
| DCTN1 | 3837 | NM_004082.5 | AD | |
| HARS1 | 1530 | NM_002109.6 | AD | |
| HINT1 | 381 | NM_005340.7 | AR | |
| HSPB1 | 618 | NM_001540.5 | AD | |
| HSPB3 | 453 | NM_006308.3 | AD | |
| PMP22 | 483 | NM_000304.4 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Group of disorders
Synonyme
- Alias: Distal hereditary motor neuropathy, DHMN
- Alias: Distal spinal muscular atrophy, DSMA
- Alias: Polyneuropathie
- Allelic: Amyotrophic lateral sclerosis 16, juvenile (SIGMAR1)
- Allelic: Amyotrophic lateral sclerosis 4, juvenile (SETX)
- Allelic: Amyotrophic lateral sclerosis 8 (VAPB)
- Allelic: Amyotrophic lateral sclerosis, susceptibility to (DCNT1)
- Allelic: Deafness, AD 4A (MYH14)
- Allelic: Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
- Allelic: Perry syndrome [parkinsonism, depression, respiratory hypoventilation] (DCNT1)
- Allelic: Spastic paraplegia 31, AD (REEP1)
- Allelic: Usher syndrome type 3B (HARS1)
- Charcot-Marie-Tooth disease, RI C (PLEKHG5)
- Charcot-Marie-Tooth disease, axonal, type 2F (HSPB1)
- Charcot-Marie-Tooth disease, axonal, type 2L (HSPB8)
- Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
- Charcot-Marie-Tooth disease, axonal, type 2O (DYNC1H1)
- Charcot-Marie-Tooth disease, axonal, type 2S (IGHMBP2)
- Charcot-Marie-Tooth disease, axonal, type 2W (HARS1)
- Charcot-Marie-Tooth disease, type 1A (PMP22)
- Charcot-Marie-Tooth disease, type 1E (PMP22)
- Charcot-Marie-Tooth disease, type 2D (GARS1)
- Dejerine-Sottas disease (PMP22)
- Developmental + epileptic encephalopathy 29 (AARS1)
- Glucose/galactose malabsorption (SLC5A1)
- Hereditary motor + sensory neuropathy, Okinawa type (TFG)
- Hereditary motor + sensory neuropathy, type IIc (TRPV4)
- Neuromyotonia + axonal neuropathy, AR (HINT1)
- Neuronopathy, distal hereditary motor, type IIA (HSPB8)
- Neuronopathy, distal hereditary motor, type IIB (HSPB1)
- Neuronopathy, distal hereditary motor, type IIC (HSPB3)
- Neuronopathy, distal hereditary motor, type IID (FBXO38)
- Neuronopathy, distal hereditary motor, type IX (WARS)
- Neuronopathy, distal hereditary motor, type VA (GARS1)
- Neuronopathy, distal hereditary motor, type VB (REEP1)
- Neuronopathy, distal hereditary motor, type VI (IGHMBP2)
- Neuronopathy, distal hereditary motor, type VIIA (SLC5A7)
- Neuronopathy, distal hereditary motor, type VIIB (DCNT1)
- Neuronopathy, distal hereditary motor, type VIII (TRPV4)
- Neuropathy, distal hereditary motor, type VA (BSCL2)
- Neuropathy, inflammatory demyelinating (PMP22)
- Neuropathy, recurrent, with pressure palsies (PMP22)
- Peripheral neuropathy, myopathy, hoarseness, hearing loss (MYH14)
- Pontocerebellar hypoplasia, type 1A (VRK1)
- Pontocerebellar hypoplasia, type 1B (EXOSC3)
- Pontocerebellar hypoplasia, type 1C (EXOSC8)
- Pontocerebellar hypoplasia, type 2A, 4, 5 (TSEN54)
- Roussy-Levy syndrome (PMP22)
- Spastic paraplegia 57, AR (TFG)
- Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
- Spinal muscular atrophy, Jokela type (CHCHD10)
- Spinal muscular atrophy, XL 2, infantile (UBA1)
- Spinal muscular atrophy, distal, AR, 2 (SIGMAR1)
- Spinal muscular atrophy, distal, AR, 4 (PLEKHG5)
- Spinal muscular atrophy, distal, AR, 5 (DNAJB2)
- Spinal muscular atrophy, distal, XL 3 (ATP7A)
- Spinal muscular atrophy, late-onset, Finkel type (VAPB)
- Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
- Spinal muscular atrophy, lower extremity-predominant, 2A + 2B, AD (BICD2)
- Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
- Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
Kein Text hinterlegt
Laboranforderung
Die in grün gezeigten Gene sind kuratiert und werden als Gen-Panel untersucht. Eine Erweiterung des Panels (blau gezeigte Gene, jeweils ebenfalls kuratiert) kann auf Anfrage erfolgen. Sofern unter "Erweitertes Panel" ein Minuszeichen angezeigt wird, sind nur Core-/Basis-Gene verfügbar.
Für die Anforderung einer genetischen Untersuchung senden Sie uns bitte die Krankheits-ID auf einem Überweisungsschein. Bitte die Material-Angabe beachten.
Für privat versicherte Patienten empfehlen wir einen Antrag auf Kostenübernahme bei der Krankenversicherung.
Die Untersuchung wird auch für Selbstzahler angeboten.