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Test Code | 1580 |
Turnaround Time (TAT) | 2-4 weeks |
Number of Genes | 1 |
We now offer single site analysis (SSA) at no additional cost to family members
following single gene or panel testing* of the first family member (proband) within 90 days of the original Ambry report date.
Order Now*excludes Secondary Findings and SNP Array tests
Genetic testing of PHOX2B will detect a mutation in >99% of people with CCHS (clinical sensitivity). Ambry's PHOX2B analysis can detect >99.9% of described mutations in the gene, when present (analytical sensitivity).
Our PHOX2B full gene sequence analysis is performed by PCR-based double-stranded automated sequencing in the sense and antisense directions for exons 1-3 of the PHOX2B gene, plus at least 5 bases into the 5’ and 3’ ends of all the introns. Alanine repeat numbers for the commonly-expanded region in exon 3 are determined and reported in all cases.
HGVS | HUGO Gene Name | Disease |
m.583G>A | MT-TF | MELAS / MM & EXIT |
m.1494C>T | MT-RNR1 | DEAF |
m.1555A>G | MT-RNR1 | DEAF |
m.1606G>A | MT-TV | AMDF |
m.1644G>A | MT-TV | HCM+MELAS |
m.3243A>G | MT-TL1 | MELAS / LS/DMDF / MIDD / SNHL / FSGS / CPEO |
m.3251A>G | MT-TL1 | MELAS |
m.3252A>G | MT-TL1 | MELAS |
m.3256C>T | MT-TL1 | MELAS |
m.3260A>G | MT-TL1 | MMC |
m.3271T>C | MT-TL1 | MELAS |
m.3291T>C | MT-TL1 | MELAS / Myopathy / Deafness+Cognitive Impairment |
m.3302A>G | MT-TL1 | MM |
m.3303C>T | MT-TL1 | MMC |
m.3460G>A | MT-ND1 | LHON |
m.3635G>A | MT-ND1 | LHON |
m.3697G>A | MT-ND1 | MELAS/LS/LDYT |
m.3700G>A | MT-ND1 | LHON |
m.3733G>A | MT-ND1 | LHON |
m.3890G>A | MT-ND1 | Progressive encephalomyopathy / LS / optic atrophy |
m.4171C>A | MT-ND1 | LHON |
m.4269A>G | MT-TI | FICP |
m.4274T>C | MT-TI | CPEO/Motor Neuron Disease |
m.4298G>A | MT-TI | CPEO / MS |
m.4300A>G | MT-TI | MICM |
m.4308G>A | MT-TI | CPEO |
m.4332G>A | MT-TQ | Encephalopathy / MELAS |
m.5537_5538insT | MT-TW | Leigh Syndrome |
m.5650G>A | MT-TA | Myopathy |
m.5703G>A | MT-TN | CPEO/MM |
m.7222A>G | MT-CO1 | peripheral neuropathy, muscle weakness, ptosis, abnormal muscle pathology |
m.7445A>G | MT-TS1 | SNHL |
m.7471dupC | MT-TS1 | PEM/AMDF/Motor neuron disease-like |
m.7497G>A | MT-TS1 | MM / EXIT |
m.7511T>C | MT-TS1 | SNHL |
m.8344A>G | MT-TK | MERRF |
m.8356T>C | MT-TK | MERRF |
m.8363G>A | MT-TK | MICM+DEAF/ MERRF/ Autism/ LS/ Ataxia+Lipomas |
m.8969G>A | MT-ATP6 | Mitochondrial Myopathy, Lactic Acidosis, |
m.8993T>C | MT-ATP6 | NARP/Leigh Disease/MILS/other |
m.8993T>G | MT-ATP6 | NARP/Leigh Disease/MILS/other |
m.9176T>C | MT-ATP6 | FBSN/Leigh Disease |
m.9176T>G | MT-ATP6 | Leigh Disease/Spastic Paraplegia |
m.9185T>C | MT-ATP6 | Leigh Disease/Ataxia/NARP-like disease |
m.10010T>C | MT-TG | PEM |
m.10158T>C | MT-ND3 | Leigh Disease |
m.10191 T>C | MT-ND3 | Leigh Disease/Leigh-like Disease/ESOC |
m.10197G>A | MT-ND3 | Leigh Disease/Dystonia/Stroke/LDYT |
m.10663T>C | MT-ND4L | LHON |
m.11777C>A | MT-ND4 | Leigh Disease |
m.11778G>A | MT-ND4 | LHON, Progressive Dystonia |
m.12147G>A | MT-TH | MERRF-MELAS/Enchephalopathy |
m.12258C>A | MT-TS2 | DMDF / RP+SNHL |
m.12315G>A | MT-TL2 | CPEO/KSS |
m.12320A>G | MT-TL2 | Myopatrhy |
m.12706T>C | MT-ND5 | Leigh Disease |
m.13513G>A | MT-ND5 | Leigh Disease/MELAS/LHON-MELAS Overlap Syndrome |
m.13514A>G | MT-ND5 | Leigh Disease/MELAS |
m.14459G>A | MT-ND6 | LDYT/Leigh Disease |
m.14482C>G | MT-ND6 | LHON |
m.14484T>C | MT-ND6 | LHON |
m.14487T>C | MT-ND6 | Dystonia/Leigh Disease/Ataxia |
m.14495A>G | MT-ND6 | LHON |
m.14568C<T | MT-ND6 | LHON |
m.14674T>C | MT-TE | Reversible COX deficiency myopathy |
m.14709T>C | MT-TE | MM+DMDF / Encephalomyopathy |
m.14849T>C | MT-CYB | EXIT / Septo-Optic Dysplasia |
m.15579A>G | MT-CYB | Multisystem Disorder, EXIT |